Raras
Buscar doenças, sintomas, genes...
Síndrome Williams
ORPHA:904CID-10 · Q93.8CID-11 · LD44.70OMIM 194050DOENÇA RARA

Transtorno genético multissistêmico raro do desenvolvimento neurológico caracterizado por aparência facial distinta, anomalias cardíacas (mais frequentemente estenose aórtica supravalvar), anormalidades cognitivas e de desenvolvimento e anormalidades do tecido conjuntivo (como frouxidão articular).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Transtorno genético multissistêmico raro do desenvolvimento neurológico caracterizado por aparência facial distinta, anomalias cardíacas (mais frequentemente estenose aórtica supravalvar), anormalidades cognitivas e de desenvolvimento e anormalidades do tecido conjuntivo (como frouxidão articular).

Pesquisas ativas
13 ensaios
29 total registrados no ClinicalTrials.gov
Publicações científicas
2.062 artigos
Último publicado: 2026 Apr 15
Medicamentos
1 registrados
CLEMASTINE

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1 medicamento registrado
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Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
13.3
Norway
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +10CID-10: Q93.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
23 sintomas
🧠
Neurológico
22 sintomas
❤️
Coração
19 sintomas
😀
Face
18 sintomas
🫘
Rins
15 sintomas
👁️
Olhos
11 sintomas

+ 85 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade da morfologia óssea da cintura pélvica
Muito frequente (99-80%)
90%prev.
Face estreita
Muito frequente (99-80%)
90%prev.
Anormalidade da função motora extrapiramidal
Muito frequente (99-80%)
90%prev.
Disgrafia
Muito frequente (99-80%)
90%prev.
Dor abdominal
Muito frequente (99-80%)
90%prev.
Anormalidade da voz
Muito frequente (99-80%)
234sintomas
Muito frequente (35)
Frequente (97)
Ocasional (91)
Muito raro (2)
Sem dados (9)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 234 características clínicas mais associadas, ordenadas por frequência.

Anormalidade da morfologia óssea da cintura pélvicaAbnormality of pelvic girdle bone morphology
Muito frequente (99-80%)90%
Face estreitaNarrow face
Muito frequente (99-80%)90%
Anormalidade da função motora extrapiramidalAbnormality of extrapyramidal motor function
Muito frequente (99-80%)90%
DisgrafiaDysgraphia
Muito frequente (99-80%)90%
Dor abdominalAbdominal pain
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico2.062PubMed
Últimos 10 anos200publicações
Pico202486 papers
Linha do tempo
2026Hoje · 2026🧪 1999Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

19 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

GTF2IGeneral transcription factor II-IRole in the phenotype ofAltamente restrito
FUNÇÃO

Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine

LOCALIZAÇÃO

CytoplasmNucleus

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
30.0 TPM
Tireoide
26.5 TPM
Fibroblastos
24.3 TPM
Glândula adrenal
21.2 TPM
Ovário
18.9 TPM
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:4659UniProt:P78347
MLXIPLMENDELIANTolerante
LOCALIZAÇÃO

FUNÇÃO (UNIPROT)

Glucose-responsive transcription activator that regulates fatty acid synthesis and glycolysis. Key determinant of systemic insulin sensitivity and glucose homeostasis. Important for the expression of fatty acid synthetic enzymes, including PC/Pcx, APOC4/Acl, ACACA/Acc1 and FASN/Fas (By similarity). Important for glucose-induced expression of L-type pyruvate kinase/PKLR (By similarity). Binds to the canonical and non-canonical E box DNA sequences 5'-CACGTG-3' and 5'-CACGCG-3' (By similarity). May also act as a transcriptional repressor (By similarity)

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
413.9 TPM
Tecido adiposo
121.4 TPM
Glândula adrenal
115.1 TPM
Cerebelo
96.3 TPM
Cérebro - Hemisfério cerebelar
88.9 TPM
UniProt:Q9NP71
TMEM270Transmembrane protein 270Role in the phenotype ofTolerante
LOCALIZAÇÃO

Membrane

OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:23018UniProt:Q6UE05
RFC2Replication factor C subunit 2Candidate gene tested inTolerante
FUNÇÃO

Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA (PubMed:9488738). This subunit binds ATP (By similarity)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (10)
Regulation of TP53 Activity through PhosphorylationG2/M DNA damage checkpointProcessing of DNA double-strand break endsPresynaptic phase of homologous DNA pairing and strand exchangeHDR through Single Strand Annealing (SSA)
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
64.6 TPM
Skin Sun Exposed Lower leg
28.3 TPM
Skin Not Sun Exposed Suprapubic
25.3 TPM
Nervo tibial
22.4 TPM
Fibroblastos
21.2 TPM
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:9970UniProt:P35250
EIF4HEukaryotic translation initiation factor 4HRole in the phenotype ofAltamente restrito
FUNÇÃO

Stimulates the RNA helicase activity of EIF4A in the translation initiation complex. Binds weakly mRNA

LOCALIZAÇÃO

Cytoplasm, perinuclear region

VIAS BIOLÓGICAS (5)
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43STranslation initiation complex formationRibosomal scanning and start codon recognitionGTP hydrolysis and joining of the 60S ribosomal subunitL13a-mediated translational silencing of Ceruloplasmin expression
EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
372.0 TPM
Fibroblastos
349.8 TPM
Artéria tibial
298.8 TPM
Cérebro - Hemisfério cerebelar
287.4 TPM
Útero
277.6 TPM
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:12741UniProt:Q15056
LIMK1LIM domain kinase 1Role in the phenotype ofAltamente restrito
FUNÇÃO

Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics. Acts downstream of several Rho family GTPase signal transduction pathways (PubMed:10436159, PubMed:11832213, PubMed:12807904, PubMed:15660133, PubMed:16230460, PubMed:18028908, PubMed:22328514, PubMed:23633677). Activated by upstream kinases including ROCK1, PAK1 and PAK4, which phosphorylate LIMK1 on a threonine residue located in its activation loop (PubMed:10436159). LIMK1 subsequently p

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, cytoskeletonCell projection, lamellipodium

VIAS BIOLÓGICAS (6)
Sema4D induced cell migration and growth-cone collapseRHO GTPases Activate ROCKsEPHB-mediated forward signalingRegulation of actin dynamics for phagocytic cup formationRHO GTPases activate PAKs
EXPRESSÃO TECIDUAL(Ubíquo)
Brain Frontal Cortex BA9
105.0 TPM
Córtex cerebral
91.2 TPM
Brain Anterior cingulate cortex BA24
84.3 TPM
Hipotálamo
58.9 TPM
Linfócitos
57.5 TPM
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:6613UniProt:P53667
STX1ASyntaxin-1ARole in the phenotype ofAltamente restrito
FUNÇÃO

Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the

LOCALIZAÇÃO

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneSynapse, synaptosomeCell membraneSecreted

VIAS BIOLÓGICAS (10)
Serotonin Neurotransmitter Release CycleGABA synthesis, release, reuptake and degradationGlutamate Neurotransmitter Release CycleNorepinephrine Neurotransmitter Release CycleAcetylcholine Neurotransmitter Release Cycle
EXPRESSÃO TECIDUAL(Ubíquo)
Córtex cerebral
157.9 TPM
Brain Frontal Cortex BA9
155.5 TPM
Cérebro - Hemisfério cerebelar
139.0 TPM
Cerebelo
137.6 TPM
Pituitária
121.0 TPM
OUTRAS DOENÇAS (2)
cystic fibrosisWilliams syndrome
HGNC:11433UniProt:Q16623
GTF2IRD2General transcription factor II-I repeat domain-containing protein 2ARole in the phenotype ofAltamente restrito
LOCALIZAÇÃO

Nucleus

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
9.8 TPM
Cervix Endocervix
8.6 TPM
Fallopian Tube
8.3 TPM
Cervix Ectocervix
7.9 TPM
Útero
7.3 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:30775UniProt:Q86UP8
ELNElastinRole in the phenotype ofTolerante
FUNÇÃO

Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity)

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (3)
Degradation of the extracellular matrixMolecules associated with elastic fibresElastic fibre formation
MECANISMO DE DOENÇA

Cutis laxa, autosomal dominant, 1

A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
1681.2 TPM
Artéria coronária
618.0 TPM
Artéria tibial
510.1 TPM
Pulmão
272.8 TPM
Esôfago - Junção
259.6 TPM
OUTRAS DOENÇAS (5)
supravalvular aortic stenosiscutis laxa, autosomal dominant 1autosomal dominant cutis laxaWilliams syndrome
HGNC:3327UniProt:P15502
GTF2IRD1General transcription factor II-I repeat domain-containing protein 1Role in the phenotype ofAltamente restrito
FUNÇÃO

May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By si

LOCALIZAÇÃO

Nucleus

EXPRESSÃO TECIDUAL(Ubíquo)
Pituitária
36.1 TPM
Músculo esquelético
27.3 TPM
Tireoide
23.6 TPM
Vagina
22.9 TPM
Cervix Ectocervix
22.4 TPM
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:4661UniProt:Q9UHL9
FKBP6Inactive peptidyl-prolyl cis-trans isomerase FKBP6Role in the phenotype ofTolerante
FUNÇÃO

Has an essential role in spermatogenesis (PubMed:36150389). It is required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons (By similarity). Acts as a co-chaperone via its interaction wit

LOCALIZAÇÃO

CytoplasmNucleus

VIAS BIOLÓGICAS (1)
PIWI-interacting RNA (piRNA) biogenesis
EXPRESSÃO TECIDUAL(Tecido-específico)
Testículo
76.7 TPM
Pituitária
0.1 TPM
Brain Spinal cord cervical c-1
0.1 TPM
Baço
0.1 TPM
Cervix Ectocervix
0.1 TPM
OUTRAS DOENÇAS (2)
spermatogenic failure 77Williams syndrome
HGNC:3722UniProt:O75344
NCF1Neutrophil cytosol factor 1Role in the phenotype ofAltamente restrito
FUNÇÃO

Subunit of the phagocyte NADPH oxidase complex that mediates the transfer of electrons from cytosolic NADPH to O2 to produce the superoxide anion (O2(-)) (PubMed:2547247, PubMed:2550933, PubMed:38355798). In the activated complex, electrons are first transferred from NADPH to flavin adenine dinucleotide (FAD) and subsequently transferred via two heme molecules to molecular oxygen, producing superoxide through an outer-sphere reaction (PubMed:38355798). Activation of the NADPH oxidase complex is

LOCALIZAÇÃO

Cytoplasm, cytosolMembrane

VIAS BIOLÓGICAS (5)
RHO GTPases Activate NADPH OxidasesVEGFA-VEGFR2 PathwayRAC3 GTPase cycleRAC1 GTPase cycleDetoxification of Reactive Oxygen Species
MECANISMO DE DOENÇA

Granulomatous disease, chronic, autosomal recessive, 1

A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.

EXPRESSÃO TECIDUAL(Tecido-específico)
Sangue
186.0 TPM
Linfócitos
163.1 TPM
Baço
72.0 TPM
Pulmão
14.3 TPM
Intestino delgado
11.1 TPM
OUTRAS DOENÇAS (3)
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1Williams syndromechronic granulomatous disease
HGNC:7660UniProt:P14598
VPS37DVacuolar protein sorting-associated protein 37DRole in the phenotype ofAltamente restrito
FUNÇÃO

Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in cell growth and differentiation

LOCALIZAÇÃO

Late endosome membrane

VIAS BIOLÓGICAS (5)
Late endosomal microautophagyHCMV Late EventsMembrane binding and targetting of GAG proteinsBudding and maturation of HIV virionEndosomal Sorting Complex Required For Transport (ESCRT)
EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
16.9 TPM
Testículo
16.6 TPM
Cerebelo
16.5 TPM
Rim - Medula
15.8 TPM
Cervix Ectocervix
14.8 TPM
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:18287UniProt:Q86XT2
BAZ1BTyrosine-protein kinase BAZ1BRole in the phenotype ofAltamente restrito
FUNÇÃO

Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator (PubMed:19092802). Involved in DNA damage response by phosphorylating 'Tyr-142' of histone H2AX (H2AXY142ph) (PubMed:19092802, PubMed:19234442). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19092802, PubMed:19234442). Regulatory subunit of the ATP-dependent WICH-1 and WICH

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (2)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksB-WICH complex positively regulates rRNA expression
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:961UniProt:Q9UIG0
CLIP2CAP-Gly domain-containing linker protein 2Role in the phenotype ofAltamente restrito
FUNÇÃO

Seems to link microtubules to dendritic lamellar body (DLB), a membranous organelle predominantly present in bulbous dendritic appendages of neurons linked by dendrodendritic gap junctions. May operate in the control of brain-specific organelle translocations (By similarity)

LOCALIZAÇÃO

CytoplasmCytoplasm, cytoskeleton

OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:2586UniProt:Q9UDT6
DNAJC30DnaJ homolog subfamily C member 30, mitochondrialCandidate gene tested inTolerante
FUNÇÃO

Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity). May be a chaperone protein involved in the turnover of the subunits of mitochondrial complex I N-module. It facilitates the degradation of N-module subunits damaged by oxidative stress, and contributes to complex I functional efficiency (PubMed:33465056)

LOCALIZAÇÃO

Mitochondrion inner membrane

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
27.4 TPM
Pituitária
18.9 TPM
Glândula adrenal
18.8 TPM
Tireoide
18.3 TPM
Brain Frontal Cortex BA9
15.8 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (3)
Leber-like hereditary optic neuropathy, autosomal recessive 1Williams syndromeLeber hereditary optic neuropathy
HGNC:16410UniProt:Q96LL9
BUD2318S rRNA (guanine-N(7))-methyltransferaseRole in the phenotype ofTolerante
FUNÇÃO

S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its met

LOCALIZAÇÃO

NucleusNucleus, nucleoplasmCytoplasm, perinuclear regionCytoplasm

VIAS BIOLÓGICAS (2)
rRNA modification in the nucleus and cytosolMajor pathway of rRNA processing in the nucleolus and cytosol
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:16405UniProt:O43709
TBL2Transducin beta-like protein 2Role in the phenotype ofTolerante
LOCALIZAÇÃO

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
218.5 TPM
Fibroblastos
38.3 TPM
Cervix Endocervix
28.7 TPM
Ovário
24.4 TPM
Cervix Ectocervix
24.3 TPM
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:11586UniProt:Q9Y4P3
METTL27Methyltransferase-like protein 27Role in the phenotype ofTolerante
LOCALIZAÇÃO

INTERAÇÕES PROTEICAS (1)
OUTRAS DOENÇAS (1)
Williams syndrome
HGNC:19068UniProt:Q8N6F8

Medicamentos e terapias

CLEMASTINEPhase 3

Mecanismo: Histamine H1 receptor antagonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

502 variantes patogênicas registradas no ClinVar.

🧬 GTF2I: GRCh38/hg38 7q11.23(chr7:73338336-74772490)x3 ()
🧬 GTF2I: GRCh38/hg38 7q11.23(chr7:73240749-74727155)x1 ()
🧬 GTF2I: NM_032999.4(GTF2I):c.113C>A (p.Ala38Asp) ()
🧬 GTF2I: GRCh37/hg19 7q11.21-11.23(chr7:65130644-74629034)x4 ()
🧬 GTF2I: GRCh37/hg19 7q11.22-11.23(chr7:71922423-76007380)x1 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 53 variantes classificadas pelo ClinVar.

45
8
Patogênica (84.9%)
VUS (15.1%)
VARIANTES MAIS SIGNIFICATIVAS
RNF157: NM_052916.3(RNF157):c.207+16830_207+16831del [Pathogenic]
ABHD11: NC_000007.14:g.(?_73303398)_(74735532_?)del [Likely pathogenic]
ABHD11: NC_000007.14:g.73304277_74727414del [Pathogenic]
ABHD11: GRCh37/hg19 7q11.23(chr7:72717395-74173168) [Pathogenic]
LOC129998592: Single allele [Pathogenic]

Vias biológicas (Reactome)

74 vias biológicas associadas aos genes desta condição.

SUMO1:GTF2IRD1 [nucleoplasm] GTF2IRD1-G97-SUMO1 [nucleoplasm] PKA-mediated phosphorylation of key metabolic factors AMPK inhibits chREBP transcriptional activation activity ChREBP activates metabolic gene expression PP2A-mediated dephosphorylation of key metabolic factors Translesion synthesis by REV1 Recognition of DNA damage by PCNA-containing replication complex Translesion Synthesis by POLH Polymerase switching on the C-strand of the telomere Activation of ATR in response to replication stress PCNA-Dependent Long Patch Base Excision Repair Translesion synthesis by POLK Translesion synthesis by POLI Termination of translesion DNA synthesis HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Gap-filling DNA repair synthesis and ligation in GG-NER Dual Incision in GG-NER Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER Regulation of TP53 Activity through Phosphorylation Polymerase switching G2/M DNA damage checkpoint Impaired BRCA2 binding to RAD51 L13a-mediated translational silencing of Ceruloplasmin expression Translation initiation complex formation Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S Ribosomal scanning and start codon recognition GTP hydrolysis and joining of the 60S ribosomal subunit Regulation of actin dynamics for phagocytic cup formation EPHB-mediated forward signaling Sema3A PAK dependent Axon repulsion Sema4D induced cell migration and growth-cone collapse RHO GTPases Activate ROCKs RHO GTPases activate PAKs Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Glutamate Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle Acetylcholine Neurotransmitter Release Cycle Insulin processing Regulation of insulin secretion Other interleukin signaling Toxicity of botulinum toxin type C (botC) LGI-ADAM interactions Neurexins and neuroligins GABA synthesis, release, reuptake and degradation Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Sensory processing of sound by inner hair cells of the cochlea Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Meiotic synapsis PIWI-interacting RNA (piRNA) biogenesis ROS and RNS production in phagocytes Cross-presentation of particulate exogenous antigens (phagosomes) Detoxification of Reactive Oxygen Species VEGFA-VEGFR2 Pathway RHO GTPases Activate NADPH Oxidases RAC1 GTPase cycle RAC2 GTPase cycle RAC3 GTPase cycle Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events Late endosomal microautophagy B-WICH complex positively regulates rRNA expression Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks rRNA modification in the nucleus and cytosol Major pathway of rRNA processing in the nucleolus and cytosol

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado2
3Fase 31
2Fase 23
·Pré-clínico15
Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 20 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Williams

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome Williams

Centros para Síndrome Williams

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

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Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

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Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

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Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

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Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

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Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

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Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

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Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

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Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

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Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

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Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

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Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

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Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

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Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

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Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

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Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

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Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

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Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

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Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

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UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

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Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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Publicações mais relevantes

🥈Melhor nível de evidência: Observacional
Timeline de publicações
753 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 753

#1

Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.

World journal of pediatrics : WJP2026 Mar 17

Williams syndrome (WS; OMIM #194,050) is a multisystem pediatric genetic disorder caused by a heterozygous microdeletion of a 1.5-1.8 Mb region at chromosome 7q11.23, encompassing 26 to 28 genes. Clinical hallmarks include cardiovascular anomalies, distinctive craniofacial morphology and neurodevelopmental deficits characterized by hypersociability, cognitive impairment and anxiety. Although causative therapies for WS still remain elusive, advances in gene editing and forebrain organoids have already greatly furthered our understanding of the underlying mechanisms. This narrative review was conducted by searching for papers using PubMed/MEDLINE. Relevant publications were identified using single and/or combined keywords including: Williams syndrome, 7q11.23, microdeletion, microduplication, atypical deletion, neurodevelopment, neuroanatomy, neuroimaging. cognitive impairment, mouse models, GTF2I, GTF2IRD1, CLIP2, LIMK1, NCF1, EIF4H, STX1A/B, FZD9, HIP1, CLDN3, FKBP6, organoid, induced pluripotent stem cell (iPSC) and forebrain organoids. Mouse models including multigene deletion strains recapitulating the WS critical region and single-gene knockout strains targeting Gtf2i, Gtf2ird1, Clip2 and Limk1 replicate key WS neurodevelopmental phenotypes, substantially contributing to mechanistic studies and therapeutic screening. In addition, forebrain organoids derived from patients or generated by gene editing have provided human-specific insights into progenitor dynamics, synaptic function, and ribosome biogenesis. This review synthesizes recent progress in WS modeling in the context of neurodevelopmental impairments. While animal models and forebrain organoids have substantially accelerated both mechanistic understanding and translational research in WS, effective diagnostic and therapeutic approaches are still unavailable. Integration of animal models and forebrain organoids, together with the advanced technologies, will be essential for biomarker discovery and development of mechanism-based therapeutic approaches.

#2

Global and Local Processing of Letters and Faces in Children and Adolescents with Typical and Atypical Development.

Brain sciences2026 Jan 16

this paper investigates the local vs. global visual processing preference in typically developing (TD) children, youth with Down syndrome (DS), and youth with Williams syndrome (WS). In particular, the global precedence effect (GPE) and the global interference effect (GI) have recently been described as two distinct and at least partially independent effects. in this study, 50 participants (TD = 25, DS = 13, WS = 12) completed two experiments requiring the identification of either the global or local level of hierarchical stimuli, which consisted of letters and schematic faces. For each stimulus type, two separate blocks were conducted, one with the task to focus on the local elements and the other with the task to focus on the global shape. our results indicate that TD children demonstrate a global precedence effect for letters but not for schematic faces, suggesting a developmental modulation of configural processing. In contrast, both DS and WS groups showed a global processing bias for schematic faces and a significant global interference effect in both conditions, likely reflecting deficits in inhibitory control. these findings challenge the notion that DS and WS individuals can be classified strictly as global or local processors, respectively, emphasizing the influence of stimulus type and cognitive demands. Implications for neurodevelopmental research and clinical interventions are discussed.

#3

Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.

Developmental science2026 Mar

The comprehension-production vocabulary gap is a well-documented hallmark of language development; however, anecdotal evidence suggests that this asymmetry may be reduced in children with Williams syndrome (WS). Here, we use empirical data to characterise the comprehension-production gap and computational modelling to investigate potential mechanisms underlying this distinctive linguistic profile, focusing on children aged 7 months to 6 years. Using parental reports (Communicative Development Inventories), we measured the receptive and expressive vocabularies of children with WS (n = 67) and compared them to typically developing children (n = 1210) and cross-syndrome groups with Down syndrome (n = 27), and fragile X syndrome (n = 15). Results confirm that children with WS show a unique trajectory: alongside general delay, they exhibit a significantly reduced comprehension-production asymmetry not observed in other groups. To elucidate the potential origins of this phenomenon, we implemented a biologically inspired neural network-self-organising map (SOM)-to model early word learning and evaluate visual and auditory map representations. Our findings reveal that WS-like vocabulary patterns can emerge from selective difficulties in visual processing, leading to exemplar-based rather than prototype-based object representations. The model suggests that these visual processing challenges, consistent with known visuospatial difficulties in WS, may contribute to the atypical comprehension-production relationship, while broader processing constraints may underlie general delays. This study provides a mechanistic account of vocabulary development in WS, highlighting the role of visual constraints in shaping lexical outcomes. More broadly, it underscores the need to conceptualise language development as an interaction between sensory input and cognitive subsystems, explaining why the comprehension-production gap is not a uniform feature of language acquisition.

#4

Lack of Williams syndrome-associated genes alters quantity discrimination in zebrafish.

Behavioural brain research2026 Jan 05

The ability to discriminate sets of items based on their numerosity is alleged to be an evolutionary conserved mechanism in all vertebrates. People with Williams syndrome (WS), a rare multigenic condition, show altered number and quantity cognition abilities. Assessing the contribution of specific genes to WS using animal models could help understand the basis of numerical impairments. Here, we assessed the quantitative abilities of juvenile zebrafish (Danio rerio) with loss of function of two of the genes affected in WS using a group size preference behavioural assay. The selected genes were: baz1b, implicated in neural crest development; and fzd9b, associated with neuronal functioning. The contrasts studied were 2 versus 5, 2 versus 4 and 2 versus 3. While group-level comparisons did not reveal statistically significant genotype differences, single-sample tests suggested a reduced preference for larger shoals in some contrasts among mutants. These trends were more apparent when the total number of items likely exceeded working memory capacity (i.e., 6 or more items), while performance on small numerosity contrasts remained relatively intact. These data agree with previous analyses of humans with WS and offer preliminary evidence that specific genes may influence quantity discrimination. Our research also supports the use of zebrafish as model organisms in which to characterise the neurobiological basis of dyscalculia in WS and associated disorders.

#5

Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.

The International journal of eating disorders2026 Mar 25

Eating disorder (ED) symptoms have been studied in adults with other rare genetic conditions but not in Williams syndrome (WS). This study examined the prevalence of ED symptoms in adults with WS and associated clinical and demographic factors. We hypothesized that a proportion would screen positive for an ED, primarily with avoidant/restrictive food intake disorder (ARFID) or binge-eating presentations. Adults with WS completed modified versions of the Eating Disorder Assessment for DSM-5 and the Pica, ARFID, and Rumination Disorder Questionnaire, administered as semi-structured interviews by trained research staff. Participants also completed a medical history questionnaire. We used descriptive and between-group analyses to examine clinical and demographic characteristics of ED-positive and ED-negative groups. Of the 86 participants, more than one quarter (n = 24, 28%; 95% CI [20%, 38%]) screened positive for an ED. Adults who screened positive for an ED most commonly had binge-type EDs (n = 15, 63%; 95% CI [43%, 79%]) and ARFID-type EDs (n = 7, 29%; 95% CI [15%, 49%]). Of those who screened positive, 96% reported they had never been previously diagnosed with an ED. Our study provides initial evidence of a high frequency of positive ED screens in adults with WS, most commonly ARFID-type and binge-type EDs. Our findings also suggest that, while prevalent in WS, EDs typically go undetected, and that it may be difficult to identify at-risk individuals. There is a need to validate ED screeners for adults with WS to enhance detection and access to care.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1.555 artigos no totalmostrando 198

2026

Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.

The International journal of eating disorders
2026

Ovarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.

American journal of physiology. Renal physiology
2026

Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.

World journal of pediatrics : WJP
2026

Ebstein's anomaly with life-threatening arrhythmia: an unusual cardiovascular manifestation of Williams syndrome - a case report.

BMC cardiovascular disorders
2026

Comparison of energy and nutrient intake, dietary diversity score and physical development between children with Williams syndrome and neurotypical developing children.

Nutricion hospitalaria
2026

Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.

Research in developmental disabilities
2026

Anxiety in Williams Syndrome: Qualitative Analysis of Caregiver and Individual Interviews.

Journal of autism and developmental disorders
2026

Supravalvular aortic stenosis with aneurysmal dilation and infective vegetations of the aortic arch in a pediatric patient with Williams syndrome: a case report and review of the literature.

Journal of medical case reports
2026

The lasting burden of gender discrimination in medicine: lifelong multisystem consequences of Rathke's pouch resection in Williams syndrome.

International journal of surgery (London, England)
2026

Global and Local Processing of Letters and Faces in Children and Adolescents with Typical and Atypical Development.

Brain sciences
2026

A systematic review and meta-analysis of morphosyntactic skills in Williams syndrome.

Acta psychologica
2026

Denosumab as a treatment for pediatric hypercalcemia-a multicenter experience.

JBMR plus
2026

Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.

Developmental science
2026

Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.

Molecular genetics &amp; genomic medicine
2025

In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome.

Child neuropsychology : a journal on normal and abnormal development in childhood and adolescence
2026

Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations.

Journal of intellectual disability research : JIDR
2025

Ambulatory General Anesthesia for Dental Treatment in a Patient With Williams Syndrome and Supravalvular Aortic Restenosis: A Case Report.

Anesthesia progress
2025

Clinical and Radiographic Evaluation of Molar Root-Incisor Malformation (MRIM): A Case Series.

Case reports in dentistry
2025

Attention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.

Frontiers in psychology
2025

A Del(5Ncf1-Fkbp6) mouse model of Williams syndrome shows coronary, aortic, and cerebral vascular abnormalities with behavioral deficits.

PNAS nexus
2025

Comparing evidence-based telemental health treatments for caregivers of children with Prader Willi and Williams syndromes: feasibility, acceptability, and preliminary outcomes.

Cognitive behaviour therapy
2025

Unveiling the alterations of action processing and mu rhythm in Williams Syndrome.

NeuroImage
2025

MOF promotes cisplatin resistance in lung cancer cells by enhancing WSTF acetylation.

In vitro cellular &amp; developmental biology. Animal
2025

Dissecting the Genetic Contribution of Tooth Agenesis.

International journal of molecular sciences
2025

Brain Monoamine Deficits in the CD Mouse Model of Williams-Beuren Syndrome.

Biomolecules
2025

Preserved phonological but impaired semantic processing in Williams syndrome: Evidence from a word association judgment task.

Research in developmental disabilities
2026

Ophthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2025

Long Segment Midaortic Stenosis in Williams Syndrome: Report of a Very Rare Presentation.

Medical journal of the Islamic Republic of Iran
2025

Observational study to preliminarily characterize the audiological profile of chinese children with williams syndrome.

Journal of otology
2026

Lack of Williams syndrome-associated genes alters quantity discrimination in zebrafish.

Behavioural brain research
2025

Williams Syndrome Associated With Facial Port-Wine Stain and Phacomatosis Pigmentovascularis: A Case Report.

Clinical case reports
2025

Psychopharmacology Clinical Trial Recruitment Challenges in Neurogenetic Syndromes: Lessons from an Open-Label Trial of Fluoxetine in Down Syndrome.

Journal of child and adolescent psychopharmacology
2025

Computerized-assisted technology of virtual reality on memory in people with Williams syndrome.

Frontiers in psychology
2025

Translation and cross-cultural adaptation of a questionnaire for assessing hyperacusis in Williams syndrome.

Arquivos de neuro-psiquiatria
2025

Bile Duct Paucity in a Case of Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Finding the Missing Piece of the Puzzle!

Journal of clinical and experimental hepatology
2025

Anxiety in Young Children with Williams Syndrome: A Longitudinal Study.

Children (Basel, Switzerland)
2025

Stenting of Significant Aortic Coarctation Near Artery of Adamkiewicz in a Toddler.

JACC. Case reports
2025

Challenges with shifting, regardless of disengagement: attention mechanisms and eye movements in Williams syndrome.

Journal of neurodevelopmental disorders
2025

Exploring the Relationship Between Empathy and Social Skills for Individuals with Different Forms of Intellectual and Developmental Disabilities.

Journal of autism and developmental disorders
2025

Characterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital.

AANA journal
2025

Williams syndrome presenting as infantile hypercalcemia with acute kidney injury: a case report.

CEN case reports
2025

Middle aortic syndrome in a paediatric patient with Williams syndrome: a case report.

Cardiology in the young
2025

Right-Sided Infectious Endocarditis in the Patient With Williams Syndrome: Importance of Recognizing Disease-Specific Pathophysiology in Adults.

Cureus
2025

Anxiety during transition from primary to secondary schools in neurodivergent children.

JCPP advances
2025

Brain lateralization for perceiving direction of motion is reversed in Williams syndrome and related to BUD23.

Scientific reports
2025

Acoustic and phonological processes in Williams Syndrome: A systematic review and meta-analysis.

Neuroscience and biobehavioral reviews
2025

Clinical course and outcomes of supravalvular aortic stenosis in adults.

Open heart
2025

Music and Language in Williams Syndrome: An Integrative and Systematic Mini-Review.

Behavioral sciences (Basel, Switzerland)
2025

Analysis of clinical audiological characteristics in children with Williams syndrome in China.

Orphanet journal of rare diseases
2025

Orthodontic-Surgical Approach for Treating Skeletal Class II Malocclusion with Severe Mandibular Hypoplasia in Williams Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Characteristics of Early Language Development in Children With Williams Syndrome.

American journal of medical genetics. Part A
2024

[MEP-24] Middle Aortic Syndrome in An Adult Presenting with Limb Ischemia.

Turk gogus kalp damar cerrahisi dergisi
2025

Differences in allele frequencies of personality-related genes in three varieties of Shiba Inu in Japan.

Animal genetics
2025

Prenatal Genetic Diagnosis of Williams-Beuren Syndrome with Atypical and Complex Phenotypes.

Clinical laboratory
2025

Toward a rational therapeutic for elastin related disease: Key considerations for elastin based regenerative medicine strategies.

Matrix biology : journal of the International Society for Matrix Biology
2025

Metabolomic profiles in serum uncover novel biomarkers in children with Williams-Beuren syndrome.

Scientific reports
2025

Severe mitral regurgitation with coexisting giant left atrium in a patient with Williams syndrome.

Journal of echocardiography
2024

Chromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.

Balkan journal of medical genetics : BJMG
2025

Application feasibility of virtual models and computational fluid dynamics for the planning and evaluation of aortic repair surgery for Williams syndrome.

Journal of cardiothoracic surgery
2025

Towards a genetics of semantics? False memories and semantic memory organization in Williams syndrome.

Neuropsychologia
2025

N -Acetylcysteine for Nonsuicidal Self-Injurious Behavior in 3 Adults With Williams Syndrome : A Case Series.

Journal of clinical psychopharmacology
2025

Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.

Scientific reports
2025

Embracing Neurodiversity in Medicine-Building a More Inclusive Physician Workforce.

JAMA
2025

Non-Hodgkin lymphoma in Williams syndrome: A coincidence or an association?

Journal of the National Medical Association
2025

Narrative microstructure and macrostructure in adolescents with Down syndrome and Williams syndrome.

Frontiers in psychology
2025

One-stage relief of bilateral outflow tract obstruction and left main coronary ostial stenosis in an infant with Williams syndrome: the technique.

Multimedia manual of cardiothoracic surgery : MMCTS
2025

Williams-Beuren syndrome case series with thinner fovea centralis and central corneal thicknesses.

Archivos de la Sociedad Espanola de Oftalmologia
2025

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.

American journal of medical genetics. Part A
2025

Orthotopic heart transplantation in patient with Williams syndrome: case report and considerations in perioperative and long-term management.

Cardiology in the young
2025

Supravalvular aortic stenosis repair in a 3-year-old child with Williams syndrome using an interdigitating slide aortoplasty.

Multimedia manual of cardiothoracic surgery : MMCTS
2025

Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.

Journal of child neurology
2024

Home literacy environment and literacy outcomes in individuals with Williams syndrome and Down syndrome.

Journal of intellectual &amp; developmental disability
2025

Visualization of complex mitral valve anatomy using real-time three-dimensional computer graphics.

The international journal of cardiovascular imaging
2024

Metabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome.

Scientific reports
2024

[Long-COVID, severe course, with congenital bronchiectasis, Williams-Campbell syndrome. Case report].

Terapevticheskii arkhiv
2025

A Prospective Open-Label Trial of Buspirone for the Treatment of Anxiety in Williams Syndrome.

Journal of child and adolescent psychopharmacology
2024

A human forebrain organoid model reveals the essential function of GTF2IRD1-TTR-ERK axis for the neurodevelopmental deficits of Williams syndrome.

eLife
2024

Assessment and Early Intervention in the Neonatal Intensive Care Unit for a Preterm Infant With Williams Syndrome.

Cureus
2025

Surgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.

Journal of pediatric ophthalmology and strabismus
2025

Perceptual Experiences of Autistic People With an Intellectual Disability and People With Williams Syndrome: A Reflexive Thematic Analysis.

Journal of applied research in intellectual disabilities : JARID
2024

Long-Latency Auditory Evoked Potentials in Adults with Williams Syndrome.

Journal of the American Academy of Audiology
2024

Delineation of cross-domain associations between everyday executive function and adaptive behaviour in Down syndrome and Williams syndrome.

Scientific reports
2024

News insights into social cognition in Williams syndrome from a comprehensive assessment and a virtual reality task.

Scientific reports
2024

Oxytocin and our place in the universe.

Comprehensive psychoneuroendocrinology
2024

USP3 promotes DNA damage response and chemotherapy resistance through stabilizing and deubiquitinating SMARCA5 in prostate cancer.

Cell death &amp; disease
2024

A Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related Epilepsy.

Cureus
2024

Sensory Processing Challenges in Children with Neurodevelopmental Disorders and Genetic Conditions: An Observational Study.

NeuroSci
2024

[Characteristics of early cognitive development in children with Williams syndrome: a prospective cohort study].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2024

Unexpected and atypical clinical presentation of myocardial infarction in infants and children: complex pathogenesis of progressive and lethal disease.

Cardiology in the young
2026

Behaviour and Psychopathology in Preschool Children with William Syndrome and the Effects of Age, Sex and Cognition.

Journal of autism and developmental disorders
2024

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.

medRxiv : the preprint server for health sciences
2024

RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.

Journal of genetics and genomics = Yi chuan xue bao
2025

Regulation and signaling of the LIM domain kinases.

BioEssays : news and reviews in molecular, cellular and developmental biology
2024

A multidisciplinary approach to managing severe scoliosis and cardiovascular complications in a patient with Williams syndrome: A rare report of a case.

Asian journal of surgery
2024

The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.

Life (Basel, Switzerland)
2025

Overuse of familiar phrases by individuals with Williams syndrome masks differences in language processing.

Journal of child language
2024

Bilateral ureteral obstruction after open ureteral reimplantation in a 3-year-old patient with Williams Beuren syndrome.

Radiology case reports
2024

Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.

Prenatal diagnosis
2024

Clinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome.

Journal of the American Heart Association
2024

Noninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19,607 pregnancies.

Annals of medicine
2024

The role of social motivation in sharing and fairness: insights from Williams syndrome.

Journal of neurodevelopmental disorders
2024

Automated Multi-Class Facial Syndrome Classification Using Transfer Learning Techniques.

Bioengineering (Basel, Switzerland)
2024

Developmental process of the understanding of linguistic register in children: A comparison of typically developing children, autistic children, and children with Williams syndrome.

Autism research : official journal of the International Society for Autism Research
2024

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

Cytogenetic and genome research
2024

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.

Orphanet journal of rare diseases
2025

Inhibitory Systems in Brain Evolution: Pathways of Vulnerability in Neurodevelopmental Disorders.

Brain, behavior and evolution
2024

Hinchey III Diverticulitis in a 31-Year-Old Patient With Williams Syndrome: A Case Report.

Cureus
2024

Symptoms of autism in Williams syndrome: a transdiagnostic approach.

Scientific reports
2024

Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children.

Postgraduate medical journal
2024

Gastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort.

American journal of medical genetics. Part A
2024

Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.

BMJ case reports
2025

Levodopa-responsive dystonia, parkinsonism, and treatment-resistant schizoaffective disorder in Williams syndrome.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2024

A case of Williams syndrome with Wolff-Parkinson-White syndrome.

Birth defects research
2024

The anatomic repair of recurrent aortic arch obstruction in children and adolescents.

JTCVS open
2024

Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.

The Journal of clinical investigation
2024

Comparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.

The application of clinical genetics
2024

Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome.

International archives of otorhinolaryngology
2024

Spatial exploration and navigation in Down syndrome and Williams syndrome.

Cortex; a journal devoted to the study of the nervous system and behavior
2024

Approximating facial expression effects on diagnostic accuracy via generative AI in medical genetics.

Bioinformatics (Oxford, England)
2024

Increased heart rate fragmentation in those with Williams-Beuren syndrome suggests nonautonomic mechanistic contributors to sudden death risk.

American journal of physiology. Heart and circulatory physiology
2025

Long-Term Outcomes of Individualized Repair in Patients with Supravalvular Aortic Stenosis.

Pediatric cardiology
2024

Human Genetics of Semilunar Valve and Aortic Arch Anomalies.

Advances in experimental medicine and biology
2024

Optimization and evaluation of facial recognition models for Williams-Beuren syndrome.

European journal of pediatrics
2024

Generation of two induced pluripotent stem cell lines from patients with Williams syndrome.

Stem cell research
2024

Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye.

The Turkish journal of pediatrics
2023

Developmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills.

Turkish journal of medical sciences
2024

Why do individuals with Williams syndrome or Down syndrome fail the Weather Prediction Task?

Developmental psychobiology
2024

Parental and Child Sleep: Children with Vision Impairment, Autistic Children, and Children with Comorbid Vision Impairment and Autism.

Brain sciences
2024

Caregiver-reported barriers to care for children and adults with Williams Syndrome.

Journal of community genetics
2024

The Development of Socially Directed Attention: A Functional Magnetic Resonance Imaging Study in Infant Monkeys.

Journal of cognitive neuroscience
2024

Contrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms.

Scientific reports
2024

Numerical study of hemodynamic flow in the aortic vessel of Williams syndrome patient with congenital heart disease.

Journal of biomechanics
2024

Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome.

Frontiers in endocrinology
2024

Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.

American journal on intellectual and developmental disabilities
2024

Case Report: Rapid and progressive left ventricular endocardial calcification in an infant with Williams syndrome.

Frontiers in pediatrics
2024

Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.

Journal of the American Heart Association
2024

Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.

Journal of the American Heart Association
2025

Using a community engaged research approach to develop the social skills training program for adults with Williams syndrome.

Journal of intellectual disabilities : JOID
2024

Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.

Journal of personalized medicine
2024

N -acetylcysteine for Trichotemnomania in an Adult Female With Williams Syndrome.

Journal of clinical psychopharmacology
2024

Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.

Clinical laboratory
2024

Cognitive strengths in neurodevelopmental disorders, conditions and differences: A critical review.

Neuropsychologia
2024

Celiac Disease-Related Conditions: Who to Test?

Gastroenterology
2024

Patch aortoplasty for supravalvular aortic stenosis in an adult patient: A case report.

International journal of surgery case reports
2024

Neuronal deletion of Gtf2i results in developmental microglial alterations in a mouse model related to Williams syndrome.

Glia
2024

Pragmatic skills in people with Williams syndrome: the perception of families.

Orphanet journal of rare diseases
2024

Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.

Cell reports
2024

Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.

Prenatal diagnosis
2023

[Williams-Beuren syndrome: a retrospective study of a series of 11 cases at the Mohammed VI University Hospital in Marrakech].

The Pan African medical journal
2024

Altered pubertal timing in 7q11.23 copy number variations and associated genetic mechanisms.

iScience
2024

Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature.

Medicine
2024

Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

Journal of the American Heart Association
2024

Concurrent predictors of mathematics achievement for 9-year-old children with Williams syndrome.

Scientific reports
2025

Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.

Journal of autism and developmental disorders
2024

Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome.

JCI insight
2024

Buspirone for the treatment of anxiety in Williams syndrome: a retrospective chart review study.

Expert opinion on pharmacotherapy
2024

Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland.

Research in developmental disabilities
2024

Brazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years.

Jornal de pediatria
2024

Incidental Diagnosis of Williams Syndrome in an Adult With Recurrent Hypercalcemia.

JCEM case reports
2024

Fatal cardiac dysfunction in a child with Williams syndrome.

Legal medicine (Tokyo, Japan)
2023

Early Communicative Development in Williams Syndrome: A Longitudinal Case Study.

Children (Basel, Switzerland)
2024

Strategies for the Surgical Management of Highly Aggressive Williams Syndrome Aortopathy: A Three Case Report.

Pediatric cardiology
2023

Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.

Communications biology
2024

Transposons in the Williams-Beuren Syndrome Critical Region are Associated with Social Behavior in Assistance Dogs.

Behavior genetics
2024

Psychiatric and behavioral manifestations of Williams syndrome.

Current opinion in psychiatry
2024

"Tardus-parvus waveform" the only initial clue to mid-aortic syndrome- a rare cause of youth onset hypertension: A case report and a comprehensive review.

Radiology case reports
2024

Optical coherence tomography angiography findings in Williams-Beuren syndrome.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2023

Oral language interventions can improve language outcomes in children with neurodevelopmental disorders: A systematic review and meta-analysis.

Campbell systematic reviews
2023

Adult William's Syndrome: The Cause of an Unusual Vasculopathy and Biliary Abnormalities.

Cureus
2023

The results of genetic analysis and clinical outcomes after stent deployment in adult patients with isolated peripheral pulmonary artery stenosis.

The European respiratory journal
2023

Development of emotion comprehension in children with autism spectrum disorder and Williams syndrome.

Autism research : official journal of the International Society for Autism Research
2024

Electrocardiograms Do Not Detect Myocardial Ischemia in Patients With Williams Syndrome and Nonsyndromic Elastin Arteriopathy With Coronary Artery Stenosis.

The American journal of cardiology
2023

Longitudinal Predictors of Word Reading for Children with Williams Syndrome.

Reading and writing
2023

Williams-Beuren syndrome shapes the gut microbiota metaproteome.

Scientific reports
2023

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review.

Medicine
2023

Internalising and Externalising Symptoms and Their Association with the Family Environment in Young Children with Williams Syndrome: A Longitudinal Study.

Children (Basel, Switzerland)
2023

No transfer of arousal from other's eyes in Williams syndrome.

Scientific reports
2024

Intensive Care Unit Analgosedation After Cardiac Surgery in Children with Williams Syndrome : a Matched Case-Control Study.

Pediatric cardiology
2024

Loss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.

Developmental biology
2023

Multisensory Texture Perception in Individuals with Williams Syndrome.

Children (Basel, Switzerland)
2023

Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndrome.

Journal of applied research in intellectual disabilities : JARID
2023

Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.

Journal of neurodevelopmental disorders
2023

Deletion of Gtf2i via Systemic Administration of AAV-PHP.eB Virus Increases Social Behavior in a Mouse Model of a Neurodevelopmental Disorder.

Biomedicines
2023

Distinct neuroanatomical and neuropsychological features of Down syndrome compared to related neurodevelopmental disorders: a systematic review.

Frontiers in neuroscience
2023

Addressing fears of children with Williams syndrome: therapist and child behavior in the context of a novel play-and humor-infused exposure therapy approach.

Frontiers in psychology
2023

Neuroimaging research in Williams syndrome: Beginning to bridge the gap with clinical care.

Neuroscience and biobehavioral reviews
2023

Ocular features in Williams-Beuren syndrome: a review of the literature.

Current opinion in ophthalmology
2023

Aortic Dissection and Supravalvular Aortic Stenosis With Williams Syndrome Complicated by Infection.

Annals of thoracic surgery short reports
2024

Diversity of Participants in Williams Syndrome Intervention Studies.

Journal of autism and developmental disorders
2023

Dissociable Cognitive Systems for Recognizing Places and Navigating through Them: Developmental and Neuropsychological Evidence.

The Journal of neuroscience : the official journal of the Society for Neuroscience
2023

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.

Journal of global health
2023

Body mass index variation in adults with Williams syndrome: associations with predicted dietary intake and food behaviors.

Food &amp; nutrition research
2023

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2023

Lethal Fungal Aortitis In Surgically Corrected Supravalvular Aortic Stenosis In A Child With Williams Syndrome.

Journal of Ayub Medical College, Abbottabad : JAMC
2023

Characterization of the Zebrafish Elastin a (elnasa12235) Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects.

Cells
2023

Investigating Cardiac Arrhythmias among Patients With Williams Syndrome in the United States: An Analysis Using the 2016 to 2020 National Inpatient Sample.

The American journal of cardiology
2023

Dysfunctional Mitochondria in the Cardiac Fibers of a Williams-Beuren Syndrome Mouse Model.

International journal of molecular sciences
2023

Extensive characterization of a Williams syndrome murine model shows Gtf2ird1-mediated rescue of select sensorimotor tasks, but no effect on enhanced social behavior.

Genes, brain, and behavior
Ver todos os 1.555 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Centro de Genética Humana , Instituto de Ciências Biológicas, Universidade Federal de Goiás (CEGH-ICB/UFG)

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome Williams

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.
    World journal of pediatrics : WJP· 2026· PMID 41845159mais citado
  2. Global and Local Processing of Letters and Faces in Children and Adolescents with Typical and Atypical Development.
    Brain sciences· 2026· PMID 41594817mais citado
  3. Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.
    Developmental science· 2026· PMID 41504273mais citado
  4. Lack of Williams syndrome-associated genes alters quantity discrimination in zebrafish.
    Behavioural brain research· 2026· PMID 41043553mais citado
  5. Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.
    The International journal of eating disorders· 2026· PMID 41878794mais citado
  6. Motor Characteristics of Early Walking in Children With Williams Syndrome.
    Percept Mot Skills· 2026· PMID 41983540recente
  7. Case Report: Two infants with hypercalcemia of rare and distinct etiologies.
    Front Endocrinol (Lausanne)· 2026· PMID 41982776recente
  8. Evaluation of Perioperative Anesthetic Outcomes in Patients with Williams Syndrome Based on the Risk Stratification.
    Ann Card Anaesth· 2026· PMID 41979302recente
  9. Ovarian hormones moderate systolic hypertension in female Eln haploinsufficient mice.
    Am J Physiol Renal Physiol· 2026· PMID 41869856recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:904(Orphanet)
  2. OMIM OMIM:194050(OMIM)
  3. MONDO:0008678(MONDO)
  4. GARD:7891(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q558077(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Williams
Compêndio · Raras BR

Síndrome Williams

ORPHA:904 · MONDO:0008678
Prevalência
1-5 / 10 000
Herança
Autosomal dominant
CID-10
Q93.8 · Outras deleções dos autossomos
CID-11
Ensaios
13 ativos
Medicamentos
1 registrados
Início
Antenatal, Neonatal
Prevalência
13.3 (Norway)
MedGen
UMLS
C0175702
EuropePMC
Wikidata
Wikipedia
Papers 10a
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