A amelogênese imperfeita (AI) representa um grupo de condições de desenvolvimento que afetam a estrutura e a aparência clínica do esmalte de todos ou quase todos os dentes de maneira mais ou menos igual, e que podem estar associadas a alterações morfológicas ou bioquímicas em outras partes do corpo.
Introdução
O que você precisa saber de cara
A amelogênese imperfeita (AI) representa um grupo de condições de desenvolvimento que afetam a estrutura e a aparência clínica do esmalte de todos ou quase todos os dentes de maneira mais ou menos igual, e que podem estar associadas a alterações morfológicas ou bioquímicas em outras partes do corpo.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 20 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 52 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
18 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked dominant.
Involved in the mineralization and structural organization of enamel
Secreted, extracellular space, extracellular matrix
Amelogenesis imperfecta 1F
A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition.
May dephosphorylate receptor tyrosine-protein kinase ERBB4 and inhibits its ligand-induced proteolytic cleavage (PubMed:15219672). May play a role in odontogenesis (PubMed:27843125)
Membrane
Amelogenesis imperfecta 1J
A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin.
Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). May play a central role in tooth enamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361' site
Secreted, extracellular space, extracellular matrix
Amelogenesis imperfecta, hypomaturation type, 2A2
A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Integrin alpha-V:beta-6 (ITGAV:ITGB6) is a receptor for fibronectin and cytotactin (PubMed:17158881, PubMed:17545607). It recognizes the sequence R-G-D in its ligands (PubMed:17158881, PubMed:17545607). Internalization of integrin alpha-V/beta-6 via clathrin-mediated endocytosis promotes carcinoma cell invasion (PubMed:17158881, PubMed:17545607). ITGAV:ITGB6 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (PubMed:17158881). Integrin alpha-V:beta-6 (IT
Cell membraneCell junction, focal adhesion
Amelogenesis imperfecta 1H
A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored.
Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel
Secreted, extracellular space, extracellular matrix
Amelogenesis imperfecta 1E
An X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small.
Proton-sensing G-protein coupled receptor activated by extracellular pH, which is required to monitor pH changes and generate adaptive reactions (PubMed:12955148, PubMed:29677517, PubMed:32865988, PubMed:33478938, PubMed:39753132, PubMed:40215959, PubMed:40215960). The receptor is almost silent at pH 7.8 but fully activated at pH 6.8 (PubMed:12955148, PubMed:39753132). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and mod
Cell membrane
Amelogenesis imperfecta, hypomaturation type, 2A6
A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Is a promoter of calcium phosphate mineralization, playing a critical role in the formation of the compact, mineralized, aprismatic enamel surface layer during the maturation stage of amelogenesis
Secreted
Amelogenesis imperfecta 3B
An autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects.
May play a major role in the structural organization and calcification of developing enamel (PubMed:18252228). May play a role in keratin cytoskeleton disassembly by recruiting CSNK1A1 to keratin filaments. Thereby, it may regulate epithelial cell migration (PubMed:23902688)
Cytoplasm, cytoskeletonCytoplasm
Amelogenesis imperfecta 3A
An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption.
Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity)
NucleusCytoplasm
Trichodentoosseous syndrome
An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology.
May promote nucleation of hydroxyapatite
Secreted
Amelogenesis imperfecta, hypomaturation type, 2A4
A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Has a major role in enamel formation (PubMed:15235027). Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix (By similarity)
Secreted
Amelogenesis imperfecta, hypomaturation type, 2A1
A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation
Secreted, extracellular space, extracellular matrix
Amelogenesis imperfecta 1B
An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI).
Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:12379639, PubMed:26631410). Controls the rapid response termination and proper regulation of adaptation in olfactory sensory neurons (OSNs) which subsequently influences how odor information is encoded and perceived (By similarity). May play a role in calcium transport during amelogenesis (PubMed:23375655, PubMed:24621671)
Cell membraneCytoplasm
Amelogenesis imperfecta, hypomaturation type, 2A5
A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals
SecretedGolgi apparatusEndoplasmic reticulum
Amelogenesis imperfecta 1G
A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth.
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components
Secreted, extracellular space, extracellular matrix, basement membrane
Epidermolysis bullosa, junctional 1B, severe
A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1B is an autosomal recessive, severe form characterized by bullous lesions appearing at birth, and extensive denudation of skin and mucous membranes that may be hemorrhagic. Death occurs usually within the first six months of life. Occasionally, children survive to teens.
Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane
Cytoplasmic vesicle
Amelogenesis imperfecta, hypomaturation type, 2A3
A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
Promotes cell proliferation (By similarity). Plays a role in tooth germ growth (By similarity). Plays a role in the control of enamel mineralization. Binds the AMBN promoter (PubMed:32167558)
Nucleus
Amelogenesis imperfecta 1K
A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1K is an autosomal dominant form characterized by hypoplastic enamel in all teeth.
May play a role in apoptosis (PubMed:19969290, PubMed:28688764). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946)
Cell membraneCytoplasmCytoplasm, perinuclear region
Amelogenesis imperfecta 3C
An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides.
Variantes genéticas (ClinVar)
103 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 985 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
22 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Amelogênese imperfeita
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
9 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
Non-Invasive and Holistic Approach to the Functional and Esthetic Rehabilitation of Amelogenesis Imperfecta in Young Patients: A Clinical Study.
Amelogenesis imperfecta (AI) is a hereditary enamel defect that often causes sensitivity, functional limitations, and esthetic concerns in young patients. This clinical study evaluated a non-invasive and holistic approach to rehabilitation using preventive fluoride therapy, pit and fissure sealants, microabrasion, and adhesive composite restorations. Young patients with AI who underwent clinical and radiographic evaluation were the subjects of this clinical study. rehabilitation while maintaining the greatest amount of tooth structure possible. Thin composite veneers were applied using adhesive techniques in a few chosen anterior cases with a higher esthetic demand. Patients showed marked reduction in sensitivity, improved chewing comfort, and enhanced esthetic satisfaction over a six-month follow-up, with high restoration survival and notable psychosocial benefits. The findings suggest that conservative, patient-centered management can effectively restore function and appearance in AI during growth, while preserving tooth structure and supporting overall well-being.
Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.
DLX3 is a homeobox transcription factor essential for multiple organogenesis processes. Mutations in DLX3 cause trichodentoosseous syndrome (TDO), characterized by curly hair, sclerotic bone, enamel, and dentin defects as well as taurodontism. Phenotypic variability in TDO has been well documented, but its pathogenesis remains poorly understood. Here, we characterized three TDO families with distinct clinical features and identified a known DLX3 deletion (c.561_562del) and the first pathogenic splice-site variant (c.516+1_516+2insA). The proband with the splice-site mutation displayed a mesenchymal-dominant phenotype with severe dentin hypoplasia, enlarged pulp chambers, and hypertaurodontism but nearly normal enamel, whereas the mother and sister showed epithelial-dominant anomalies, including enamel hypoplasia and kinky hair. Minigene analysis demonstrated that c.516+1_516+2insA generated two aberrant transcripts encoding p.Val173Aspfs*28 and p.Arg120_Val173del. These mutant proteins localized mainly in the cytoplasm and showed markedly reduced transactivation activity. In cultured human dental pulp cells, DLX3 overexpression upregulated the odontoblastic markers DSPP, MMP20, and WNT10A. Chromatin immunoprecipitation and reporter assays further revealed that DLX3 directly activates WNT10A via a conserved enhancer (chr2:218,878,973_218,879,302) and three upstream binding sites. These findings expand the TDO mutational spectrum and suggest that differential mutant DLX3 expression may contribute to phenotypic variability, whereas disrupted regulation of WNT10A underlies dentin defects and taurodontism.
Soluble Notch agonist enables human ameloblast maturation and enamel-like tissue formation for tooth regeneration.
Enamel, the hardest mineralized material in the human body, protects the underlying living tissues, the dentin and pulp of the tooth. However, over 90% of adults have lost or damaged enamel and cannot regenerate the protective structure due to lack of enamel-producing cells, ameloblasts. iPSC-derived secretory Ameloblasts (isAM) have promise in future regenerative dentistry. Today, it is not known why iAM maturation requires intimate contact with the dentin-producing cell type, odontoblast. Here, we reveal that one of the critical signaling ligands emanating from odontoblasts for ameloblast maturation is Delta, the ligand for Notch receptor. We showed that our designed, soluble Notch agonist can induce iAM organoid maturation in an unprecedented manner, without interactions with odontoblast layer. Notably, soluble Notch agonist induces the iAM maturation to a novel, WDR72-positive mature secretory AM stage (ismAM) in our ameloblast organoid model. When transplanted under the kidney capsule of NOD-SCID mice, these ismAM organoids generated enamel-like calcified material, as confirmed by microCT analysis, marking the first demonstration that Notch-activated iAM organoids can form such tissue in vivo. This novel maturation procedure enabled us to analyze the specific requirements of DLX3 function in ameloblasts, independent of its known function in odontoblasts. We now show that DLX3, a gene associated with Amelogenesis Imperfecta, is required on a cell-autonomous manner in human ameloblasts for the expression of Enamelin, MMP20, and WDR72, a role not previously demonstrated in mouse models.
Novel MMP20 (matrix metalloproteinase 20) mutations causing hypoplastic-hypomaturation amelogenesis imperfecta.
Matrix metalloproteinase 20 (MMP20) is a proteinase essential for dental enamel formation. Mutations in human MMP20 cause autosomal recessive amelogenesis imperfecta (AI), characterized by thin and soft enamel. This study aimed to unravel the genetic causes for five families with hypoplastic-hypomaturation AI. Whole-exome analyses and Sanger sequencing were performed to identify and confirm disease-causing mutations. To evaluate the pathogenicity of identified MMP20 missense variants, immunoblotting and gelatin zymography were conducted on proteins overexpressed in HEK293T cells. All affected individuals from the five families exhibited similar dental phenotypes, including chalky-white to yellow-brown discolorations and evident dental attrition. The defective enamel was both thin and hypomineralized. Six pathogenic MMP20 variants were identified: c.289A>T (p.Lys97∗), c.547G>A (p.Asp183Asn), c.686G>A (p.Gly229Asp), c.102G>A (p.Trp34∗), c.359dup (p.Asn120Lysfs∗9), and c.954-2A>T. Among them, the first three have not been previously reported. The two missense mutations altered evolutionarily conserved amino acid residues within the catalytic domain of MMP20. Compared with the wild type, secretion of both mutant MMP20 proteins was significantly impeded, and neither displayed proteolytic activity on gelatin zymography, indicating a loss of enzymatic function. This study expands the genotypic spectrum of MMP20-associated AI and highlights two critical residues within the MMP20 catalytic domain that are essential for its secretion and enzymatic activity.
FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.
Amelogenesis imperfecta type 1G (AI1G), also known as Enamel-Renal-Gingival Syndrome (ERGS), is an autosomal recessive disorder caused by variants in FAM20A, encoding a Golgi apparatus protein crucial for protein processing and secretion. AI1G presents with enamel defects, nephrocalcinosis and gingival overgrowth. Building upon our previous findings demonstrating the impact of FAM20A insufficiency on deciduous dental pulp cells, this study investigated the molecular mechanisms underlying gingival fibromatosis in AI1G. RNA sequencing of gingival fibroblasts from an AI1G patient revealed widespread differential gene expression (DEG). Gene Ontology (GO) analysis demonstrated enrichment of DEGs in biological processes related to cell adhesion, differentiation, proliferation (including positive regulation and cell division), cell cycle regulation, apoptosis and signal transduction. Pathway analysis (Reactome and KEGG) further highlighted the dysregulation of signalling pathways, including Wnt, TGF-β, cell cycle, DNA replication, Rho GTPase signalling and extracellular matrix organisation. Functional assays confirmed these findings, revealing delayed initial attachment and spreading, impaired osteogenic differentiation (evidenced by reduced mineralization and downregulation of DLX5, OCN, RUNX2 and OPN), enhanced cell cycle progression and proliferation (increased colony size and proliferation rates, along with a shift from G0/G1 to G2/M phase) and suppressed apoptosis in FAM20A-insufficient fibroblasts. These results suggest that FAM20A plays a critical role in regulating fundamental processes in gingival fibroblasts, and its insufficiency contributes to the gingival fibromatosis phenotype observed in AI1G through the disruption of cell adhesion, differentiation, proliferation and apoptosis. This study proposes novel insights into the pathogenesis of AI1G and highlights potential therapeutic targets for this complex disorder.
Publicações recentes
ACP4 Variants in Hypoplastic Amelogenesis Imperfecta.
Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report.
Spatial Transcriptomics of Early Tooth Morphogenesis in Formalin-fixed Paraffin-embedded Mouse Embryonic Tissue.
Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.
Non-Invasive and Holistic Approach to the Functional and Esthetic Rehabilitation of Amelogenesis Imperfecta in Young Patients: A Clinical Study.
📚 EuropePMC805 artigos no totalmostrando 193
Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.
Oral diseasesNon-Invasive and Holistic Approach to the Functional and Esthetic Rehabilitation of Amelogenesis Imperfecta in Young Patients: A Clinical Study.
Journal of pharmacy & bioallied sciencesGeneration and characterization of a murine amelogenesis imperfecta model.
Archives of oral biologyDifferential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.
Annals of the New York Academy of SciencesSoluble Notch agonist enables human ameloblast maturation and enamel-like tissue formation for tooth regeneration.
International journal of oral scienceSplicing mutation in DSPP causes dentinogenesis imperfecta and amelogenesis imperfecta.
BMC oral healthFull-Mouth Reconstruction in Amelogenesis Imperfecta: A Case Report.
The American journal of case reportsThe emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.
Epileptic disorders : international epilepsy journal with videotapeWDR72 Is Required for Urinary Acidification and Normal H+-ATPase Activity in Intercalated Cells in Mice.
Acta physiologica (Oxford, England)Comparative effectiveness of cervical vertebral maturation and hand-wrist radiography in assessing bone age in patients with amelogenesis imperfecta: a retrospective analysis.
BMC oral healthNovel MMP20 (matrix metalloproteinase 20) mutations causing hypoplastic-hypomaturation amelogenesis imperfecta.
Journal of dental sciencesFAM83H Regulates Postnatal T Cell Development Through Thymic Stroma Organization.
European journal of immunologyFull Mouth Rehabilitation with All-Ceramic Restorations in a Patient with Amelogenesis Imperfecta: A Case Report with 10-Year Follow-Up.
Dentistry journalWhen teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.
The Pan African medical journalMultiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.
International dental journalCraniofacial Radiographic Features in Amelogenesis Imperfecta: A Case-Control Study.
CureusEnamel Maturation as a Systems Physiology: Ion Transport and Pi Flux.
CellsNovel mutation in CNNM4 gene in a Chinese family with Jalili syndrome and literature review.
International journal of ophthalmologyFAM20C and FAM20A in normal and ectopic mineralization: A focus on oro-renal syndromes.
Matrix biology : journal of the International Society for Matrix BiologyAccuracy of dental age estimation methods in children with chromosomal syndromes: A systematic review and network meta-analysis.
Archives of oral biologyUnexpectedly high levels of normally spliced transcripts from the pathogenic SLC10A7 alleles in a recessive form of skeletal dysplasia.
HGG advancesUnderstanding the Real Needs and Expectations of French Patients with Amelogenesis Imperfecta Through Facebook Content: A Qualitative Thematic Analysis.
Healthcare (Basel, Switzerland)A UK-based consensus on clinical decision flowcharts for managing childhood amelogenesis imperfecta in the permanent dentition.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryAn Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.
American journal of medical genetics. Part AROGDI-Related Disorder Resulting from Disruption of Complex Interactive Neuro-Dental Developmental Networks: A Review and Description of the First Missense Variant.
GenesMolecular genetics and long-term outcomes of primary distal renal tubular acidosis in Asia.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal AssociationLate diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.
Ophthalmic geneticsEarly Ceramic Crown Intervention in Adolescents With Severe Amelogenesis Imperfecta: A Clinical Case Series.
Clinical case reportsDental age estimation in children and adolescents with amelogenesis imperfecta.
BMC oral healthUnique Dental and Craniofacial Manifestations of Hypoplastic Amelogenesis Imperfecta in a Patient With Prune Belly Syndrome: A Rare Case Report.
Case reports in dentistry[Pathogenic gene identification and clinical management in an amelogenesis imperfecta family].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyKohlschütter-Tönz Syndrome: A Rare Clinical Entity with Amelogenesis Imperfecta in Two Siblings, Dental Management and Scoping Review.
Turkish archives of pediatricsClinical and molecular mechanistic insights into the WDR72 mutation.
BMJ case reportsTimeline of Amelogenesis Imperfecta Management.
The Journal of craniofacial surgeryIntra-familial phenotype variant in hypoplastic amelogenesis imperfecta under a complex genetic component: a family report, whole-exome sequencing, and literature review.
Journal of applied oral science : revista FOBFunctional and Aesthetic Treatment of Patients With Tooth Structure Anomalies: A Narrative Review.
CureusWDR72 Gene Variant Associated With Distal Renal Tubular Acidosis, Enuresis, Enamel Hypoplasia, Renal Cysts, and Renal Calculi: A Case Report.
CureusEsthetic Rehabilitation of a Patient With Amelogenesis Imperfecta Using the Composite Injection Moulding Technique: A Case Report.
CureusGenetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.
Human mutationIntegrating Imaging and Genomics in Amelogenesis Imperfecta: A Novel Diagnostic Approach.
GenesCitrate Transporter Expression and Localization: The Slc13a5Flag Mouse Model.
International journal of molecular sciencesImpact of Amelogenesis Imperfecta on Junctional Epithelium Structure and Function.
BiologyPeriodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years.
Clinical advances in periodonticsThe Absence of Claudin-10 in the Enamel Organ Alters Its Integrity.
Journal of dental researchOral rehabilitation with reestablishment of occlusal vertical dimension and PMMA crowns in a patient with amelogenesis imperfecta: A clinical report.
The Journal of prosthetic dentistryNew Immunohistochemical Findings on Amelogenin and Dentin Sialophosphoprotein in Genetic Tooth Diseases.
International dental journalFAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.
Cell proliferationOdontogenesis-associated phosphoprotein (ODAPH) Promotes Ameloblast adhesion and alkaline phosphatase (ALP) expression via LAMC2/ ITGB6/TGF-β1 signaling pathway.
PloS oneThe impact of dental intervention under general anesthesia in Kohlschutter-Tonz Syndrome: a case series.
BMC pediatricsImmediately loaded FP-1 interim fixed implant prosthesis for a patient with amelogenesis imperfecta using photogrammetry and a same day 3D-printing protocol: A clinical report.
The Journal of prosthetic dentistryBurden of hereditary enamel disorders.
Trends in molecular medicineFractal analysis of mandibular bone structure in children with amelogenesis imperfecta.
BoneUsing computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.
PloS oneAmelogenesis Imperfecta and Epilepsy: A Diagnostic Clue to a Neurogenetic Epilepsy Syndrome.
NeurologyIdentifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.
Molecular genetics & genomic medicineHeimler Syndrome With Tooth Agenesis, Abnormal Enamel and Dentin Mineralization, Root Maldevelopment, and PEX1 Mutation.
International dental journalDevelopmental enamel defects: a must-know for orthodontic practice.
Dental press journal of orthodonticsManagement strategies for posterior deciduous and permanent teeth with developmental defects of enamel presenting post-eruptive breakdown or atypical cavitated carious lesions: systematic review and meta-analysis.
Evidence-based dentistryChallenges of Studying Amelogenesis in Gene-Targeted Mouse Models.
International journal of molecular sciencesTowards a Modernized Framework of Histology Teaching to Integrate Genetics: Pedagogical Perspectives for Oral Histology.
GenesTreatment of a class III patient with maxillary retrognathia and amelogenesis imperfecta using a surgery-only orthognathic approach.
Journal of stomatology, oral and maxillofacial surgeryA Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions.
International journal of molecular sciencesIncisor Disorders of Merino Sheep (Ovis aries).
Journal of veterinary dentistryFunctions of secretory calcium-binding phosphoproteins in dental mineralization.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral ResearchIdentification of a novel homozygous SLC13A5 nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay.
Frontiers in genetics[Genetic analysis and multidisciplinary treatment of a pedigree affected with autosomal dominant hypocalcified amelogenesis imperfecta].
Shanghai kou qiang yi xue = Shanghai journal of stomatologyDistinctive Amelogenesis Imperfecta in Loeys-Dietz Syndrome Type II.
Journal of dental researchAortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.
Cardiology in the youngDesigned Soluble Notch Agonist Drives Human Ameloblast Maturation for Tooth Regeneration.
bioRxiv : the preprint server for biologyA novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.
Documenta ophthalmologica. Advances in ophthalmologyThe DUF1669 domain of FAM83H is required for its localization to nuclear speckles.
Scientific reportsIdentifying six single nucleotide variants in the COL17A1 gene that alter RNA splicing: database analysis and minigene assays.
Scientific reportsTruncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.
Biochemical geneticsKMT2D Regulates Tooth Enamel Development.
Journal of dental researchThe craniofacial, dental and systemic manifestations of Enamel Renal Syndrome: A Scoping review.
European journal of medical geneticsThe ROGDI protein mutated in Kohlschutter-Tonz syndrome is a novel subunit of the Rabconnectin-3 complex implicated in V-ATPase assembly.
The Journal of biological chemistryTranscript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.
Clinical geneticsOral health-related quality of life in Northland Māori children and adolescents with Polynesian amelogenesis imperfecta.
Frontiers in dental medicineDental Management of Genetic Dental Disorders: A Critical Review.
Journal of dental researchComprehensive management and oral rehabilitation of amelogenesis imperfecta: a multidisciplinary treatment approach.
BMJ case reportsEnamel renal gingival syndrome in Indian scenario: A systematic review.
Medical journal, Armed Forces India[Frameshift mutation in RELT gene causes amelogenesis imperfecta].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesAmelogenesis imperfecta in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Kidney internationalOral Manifestations in a Child With Distal Renal Tubular Acidosis, and Refractory Rickets.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryIP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.
PLoS geneticsPrevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa.
Oral diseasesProgressive Pre-Eruptive Coronal Resorption Associated With Enamel Degeneration: A Case Series.
Journal of dentistry for children (Chicago, Ill.)Surgical, orthodontic, and prosthetic management of amelogenesis imperfecta associated with severe open bite: a case report.
Journal of medicine and lifeChildhood early oral ageing syndrome: prevalence and association with possible aetiological factors and consequences for the vertical dimension of occlusion: protocol for a cross-sectional study.
BMJ openMolecular Study of FAM20A Gene and Biochemical Analysis for Amelogenesis Imperfecta Patients.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Partial Amelogenesis Imperfecta: A Report of a Rare Case.
CureusEnamel Renal Syndrome: A Case Report.
CureusFunctional and pathogenic insights into CNNM4 variants in Jalili syndrome.
Scientific reportsAmelogenesis imperfecta: Analysis of the genetic basis and treatment with a digital workflow: A clinical report.
The Journal of prosthetic dentistryClinical and Histopathologic Findings in Jalili Syndrome.
Ophthalmology. RetinaDeletion within ameloblastin multitargeting domain reduces its interaction with artificial cell membrane.
Journal of structural biologyNephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome.
Clinical dysmorphologyA Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.
Pediatric dermatologyThe intricacies of tooth enamel: Embryonic origin, development and human genetics.
Journal of structural biologyA case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis.
Upsala journal of medical sciencesAcute Angle Closure Glaucoma in a Patient With Jalili-Smith Syndrome.
CureusAn intronic variant in LAMB3 contributes to junctional epidermolysis bullosa and enamel hypoplasia via translational attenuation.
Archives of oral biologyFull-mouth rehabilitation with lithium disilicate ceramic crowns in hypoplastic amelogenesis imperfecta: a case report and review of literature.
BMC oral healthDevelopmental Defects of Enamel.
Monographs in oral scienceOrganotypic 3D Cellular Models Mimicking the Epithelio-Ectomesenchymal Bilayer During Odontogenesis.
Tissue engineering. Part ASalivary Molecular Spectroscopy with Machine Learning Algorithms for a Diagnostic Triage for Amelogenesis Imperfecta.
International journal of molecular sciencesOrthodontic bonding in special circumstances.
British dental journalThe circadian clock in enamel development.
International journal of oral scienceFixed prosthodontic rehabilitation using a facially driven fully digital workflow of a patient with syndromic amelogenesis imperfecta associated with a rare form of ectodermal dysplasia, tricho-dento-osseous (TDO) syndrome.
The Journal of prosthetic dentistryHeterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Journal of medical geneticsClinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.
Pediatric nephrology (Berlin, Germany)Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant.
Acta neurologica BelgicaOrthodontic management of amelogenesis imperfecta: A case report.
Clinical case reportsLAMB3: Central role and clinical significance in neoplastic and non-neoplastic diseases.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapiePretreatments to bonding on enamel and dentin disorders: a systematic review.
Evidence-based dentistryMini-implant assisted palate expansion and digital design in junctional epidermolysis bullosa and amelogenesis imperfecta: Case report.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryMAST4 regulates stem cell maintenance with DLX3 for epithelial development and amelogenesis.
Experimental & molecular medicineEvaluation of Ilex guayusa and Piper marginatum Extract Cytotoxicity on Human Dental Pulp Mesenchymal Stem Cells.
Dentistry journalAdvances in clinical diagnosis and management of amelogenesis imperfecta in children and adolescents.
Journal of dentistryAMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.
International journal of molecular sciencesOrthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.
Head & face medicineRoles of the histone methyltransferase SET domain bifurcated 1 in epithelial cells during tooth development.
Archives of oral biologyProtocol for generating three-dimensional induced early ameloblasts using serum-free media and growth factors.
STAR protocolsAmeloblastin and its multifunctionality in amelogenesis: A review.
Matrix biology : journal of the International Society for Matrix BiologyFull-Mouth Rehabilitation of a 15-Year-Old Girl Affected by a Rare Hypoparathyroidism (Glial Cell Missing Homolog 2 Mutation): A 3-Year Follow-Up.
Dentistry journalA novel mutation in GPR68 causes hypomaturation amelogenesis imperfecta.
Archives of oral biology[Total rehabilitation in case of amelogenesis imperfecta].
Swiss dental journalENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.
Journal of dental researchIs Italian Dentists' Knowledge of Enamel Development Defects Adequate? A Nationwide Survey.
International dental journalEnamel Renal Gingival Syndrome in an Adolescent.
Journal of dentistry for children (Chicago, Ill.)Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis.
Scientific reportsManagement of oral manifestations of a child with Heimler Syndrome-2.
BMJ case reportsRegenerative Endodontic Procedures in Immature Teeth Affected by Regional Odontodysplasia.
Journal of endodontics[Analysis of phenotype and pathogenic variant in a case of Heimler syndrome].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryFAM20A-Associated Amelogenesis Imperfecta: Gene Variants with Functional Verification and Histological Features.
The Chinese journal of dental researchInterdisciplinary full mouth rehabilitation of a patient with amelogenesis imperfecta from childhood to young adult-hood: A 12-year case report.
Clinical case reportsOrofacial Anomalies in Kindler Epidermolysis Bullosa.
JAMA dermatologyHeimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.
European journal of ophthalmologyIn-depth investigation of FAM20A insufficiency effects on deciduous dental pulp cells: Altered behaviours, osteogenic differentiation, and inflammatory gene expression.
International endodontic journalNavigating Complexity: A Case Report on a Comprehensive Dental Management Approach to Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome.
CureusBiallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Journal of medical geneticsA 25-Year Retrospective Study on Prosthetic Rehabilitation with Bonded Ceramics of Patients with Amelogenesis Imperfecta.
The International journal of prosthodonticsRenal tubular estrogen ß receptors are expressed at high levels in small vessel vasculitis and are primarily localized in the distal tubule.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyEstablishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryA novel ODAPH mutation causing amelogenesis imperfecta and its expression in human dental tissues.
Journal of dental sciencesAmelogenesis imperfecta. case report.
Revista cientifica odontologica (Universidad Cientifica del Sur)Overexpression of ameloblastin in secretory ameloblasts results in demarcated, hypomineralized opacities in enamel.
Frontiers in physiologyCRISPR/Cas9-Induced Fam83h Knock-out Leads to Impaired Wnt/β-Catenin Pathway and Altered Expression of Tooth Mineralization Genes in Mice.
Iranian journal of biotechnologyDental treatment approaches of amelogenesis imperfecta in children and young adults: A systematic review of the literature.
Journal of esthetic and restorative dentistry : official publication of the American Academy of Esthetic Dentistry ... [et al.]Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.
HeliyonProsthodontic rehabilitation of two siblings with hypoplastic (type 1) amelogenesis imperfecta: A case report.
HeliyonEtiology, Classification, and Restorative Management of Amelogenesis Imperfecta Among Children and Young Adults: A Scoping Review.
CureusPrevalence of Dental Anomalies Among Orthodontic Patients: A Retrospective Study in Saudi Arabia.
CureusThe Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.
Scientific reports[Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].
Zhonghua er ke za zhi = Chinese journal of pediatricsDentofacial manifestations in a child with Jalili syndrome.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryDevelopmental Defects of Enamel: A Bibliometric Analysis of the Top 100 Most-Cited Papers.
Caries researchIdentification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.
Calcified tissue internationalPankey Mann Schuyler Philosophy-Based Prosthetic Rehabilitation for an Amelogenesis Imperfecta Patient: A Case Report.
CureusNovel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.
Journal of dental researchIdentification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Orphanet journal of rare diseasesAutoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.
NatureSplicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
BMC oral healthPerampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review.
BMC medical genomicsA Review of Selected Dental Anomalies With Histologic Features in the Pediatric Patient.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyDigenic inheritance accounts for phenotypic variability in amelogenesis imperfecta.
Clinical geneticsCrucial Role of microRNAs as New Targets for Amelogenesis Disorders Detection.
Current drug targets[How to optimize bonding procedures on healthy and hypomineralized enamel in orthodontics?].
L' Orthodontie francaiseRecessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta.
Journal of personalized medicineDental and jawbone abnormalities linked to amelogenesis imperfecta: A retrospective and analytic study comparing panoramic radiographs.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryA novel compound heterozygous PEX1 variant in Heimler syndrome.
Experimental eye researchMisdiagnosed metabolic bone abnormality: a case report.
Journal of medical case reportsInterdisciplinary Rehabilitation Using CAD/CAM Technology for a Young Patient with Severe Malocclusion and Amelogenesis Imperfecta: A 5-Year Follow-up Case Report.
The International journal of prosthodonticsSOFT syndrome with kohlschutter-Tonz syndrome.
Journal of postgraduate medicineCase report: Enamel renal syndrome: a case series from sub-Saharan Africa.
Frontiers in oral healthOro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.
European journal of human genetics : EJHGCarbonic anhydrase II deficiency syndrome with amelogenesis imperfecta linked to a homozygous CA2 deletion.
Intractable & rare diseases research[Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyKohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation.
Clinical dysmorphologyTooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta.
Clinical oral investigationsSingle-cell census of human tooth development enables generation of human enamel.
Developmental cellMutations Causing X-Linked Amelogenesis Imperfecta Alter miRNA Formation from Amelogenin Exon4.
Journal of dental researchEnamel renal syndrome: A case report with calcifications in pulp, gingivae, dental follicle and kidneys.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryInsights into molar-incisor hypomineralisation in past populations: A call to anthropologists.
International journal of paleopathologyAssociation between malocclusions and amelogenesis imperfecta genotype and phenotype: A systematic review.
International orthodonticsMEMO1 Is Required for Ameloblast Maturation and Functional Enamel Formation.
Journal of dental researchmicroRNA-382 as a tumor suppressor? Roles in tumorigenesis and clinical significance.
International journal of biological macromolecules[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
HarefuahEpileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review.
Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric DentistryChapter 4: Development Defects of Enamel and Dentine and Coronal Caries.
Monographs in oral scienceCraniofacial Cephalometric Characteristics and Open Bite Deformity in Individuals with Amelogenesis Imperfecta-A Systematic Review and Meta-Analysis.
Journal of clinical medicineIn vivo real-time assessment of developmental defects in enamel of anti-Act1 mice using optical coherence tomography.
HeliyonAutophagy Plays a Crucial Role in Ameloblast Differentiation.
Journal of dental researchAssociações
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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.
- Non-Invasive and Holistic Approach to the Functional and Esthetic Rehabilitation of Amelogenesis Imperfecta in Young Patients: A Clinical Study.
- Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.
- Soluble Notch agonist enables human ameloblast maturation and enamel-like tissue formation for tooth regeneration.
- Novel MMP20 (matrix metalloproteinase 20) mutations causing hypoplastic-hypomaturation amelogenesis imperfecta.
- FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts.
- ACP4 Variants in Hypoplastic Amelogenesis Imperfecta.
- Vogt-Koyanagi-Harada Disease with Oral Manifestations: A Rare Case Report.
- Spatial Transcriptomics of Early Tooth Morphogenesis in Formalin-fixed Paraffin-embedded Mouse Embryonic Tissue.
- Saliva Proteomics Shows Immune Activation and Metabolic Shifts in Female Jalili Syndrome Patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:88661(Orphanet)
- MONDO:0019507(MONDO)
- GARD:5791(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q461854(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.
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