Doença dentária caracterizada pela incapacidade de desenvolver um ou mais dentes perdidos.
Introdução
O que você precisa saber de cara
Doença dentária caracterizada pela incapacidade de desenvolver um ou mais dentes perdidos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 57 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
13 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked recessive.
TGF alpha is a mitogenic polypeptide that is able to bind to the EGF receptor/EGFR and to act synergistically with TGF beta to promote anchorage-independent cell proliferation in soft agar
Secreted, extracellular spaceCell membrane
Plays a critical role in tooth and hair follicle morphogenesis through regulation of the Notch signaling pathway (PubMed:27736875). May play a role in development or function of the auditory system (PubMed:22678063)
SecretedCell surfaceCell projection, stereocilium
Deafness, autosomal recessive, 98
A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:28589954, PubMed:29178643). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in
Secreted, extracellular space, extracellular matrixSecreted
Odonto-onycho-dermal dysplasia
A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati
Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle
Pfeiffer syndrome
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
Cytokine which is involved in epithelial-mesenchymal signaling during morphogenesis of ectodermal organs. Functions as a ligand activating the DEATH-domain containing receptors EDAR and EDA2R (PubMed:11039935, PubMed:27144394, PubMed:34582123, PubMed:8696334). May also play a role in cell adhesion (By similarity) Binds only to the receptor EDAR, while isoform 3 binds exclusively to the receptor EDA2R Binds only to the receptor EDA2R
Cell membraneSecreted
Ectodermal dysplasia 1, hypohidrotic, X-linked
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.
Ubiquitin-like protein that can be covalently attached to proteins as a monomer or a lysine-linked polymer. Covalent attachment via an isopeptide bond to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4, RANBP2 or CBX4. This post-translational modification on lysine residues of proteins plays a crucial role in a number of cellular processes such as nuclear transport, DNA replication and repa
Nucleus membraneNucleus speckleCytoplasmNucleus, PML bodyCell membraneNucleus
Non-syndromic orofacial cleft 10
A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
Member of the Wnt ligand gene family that encodes for secreted proteins, which activate the Wnt signaling cascade. Specifically activates canonical Wnt/beta-catenin signaling and thus triggers beta-catenin/LEF/TCF-mediated transcriptional programs. Involved in signaling networks controlling stemness, pluripotency and cell fate decisions. Acts in the immune system, mammary gland, adipose tissue, bone and skin
Secreted, extracellular space, extracellular matrixSecreted
Split-hand/foot malformation 6
A limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have intellectual disability, ectodermal and craniofacial findings, and orofacial clefting.
Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B
Cytoplasm
Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.
Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity)
NucleusCytoplasm
Van der Woude syndrome 1
An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes (PubMed:11357136, PubMed:11448771, PubMed:15778503, PubMed:16341017, PubMed:16513652, PubMed:17326769, PubMed:17400545, PubMed:19107203, PubMed:19293931, PubMed:19801552, PubMed:28341812, PubMed:34896607). Cell-surface coreceptor of Wnt/beta-catenin signaling, which plays a pivotal role in various processes including retinal an
Cell membraneEndoplasmic reticulumMembrane raft
Coronary artery disease, autosomal dominant, 2
A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction.
Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs
Nucleus
Tooth agenesis, selective, 3
A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth).
Acts as a transcriptional repressor (By similarity). Capable of transcription autoinactivation (By similarity). Binds to the consensus sequence 5'-C/GTAAT-3' in downstream activin regulatory elements (DARE) in the gene promoter, thereby repressing the transcription of CGA/alpha-GSU and GNRHR (By similarity). Represses transcription of myoblast differentiation factors (By similarity). Binds to core enhancer regions in target gene promoters of myoblast differentiation factors with binding specific
Nucleus
Tooth agenesis, selective, 1
A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients.
Cytokine that inhibits the activity of BMP2 and BMP4 in a dose-dependent manner, and thereby modulates signaling by BMP family members. Contributes to the regulation of embryonic morphogenesis via BMP family members. Antagonizes BMP4-induced suppression of progesterone production in granulosa cells
Secreted
Tooth agenesis, selective, 9
A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG9 inheritance is autosomal dominant.
Variantes genéticas (ClinVar)
490 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 3,954 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
77 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 — Oligodontia
Selecione um estado ou use sua localização para ver resultados.
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Patterns of Mandibular Incisor Agenesis in Japanese Patients With Non-syndromic Oligodontia: A Retrospective Study.
Background Most studies on congenitally missing teeth include patients with hypodontia because of limited case numbers, whereas reports focusing exclusively on oligodontia are scarce. Although Japanese individuals are reported to have a relatively high prevalence of missing mandibular incisors, the characteristics of mandibular incisor agenesis in Japanese patients with oligodontia and its relationship with overall severity remain unclear. Methods This retrospective study included patients diagnosed at the Department of Orthodontics, Tokyo Dental College Chiba Hospital, between 1984 and 2022. Patients with non-syndromic oligodontia, defined as congenital absence of six or more permanent teeth excluding third molars, were identified. The prevalence and distribution of missing mandibular incisors, maxillary and mandibular canines, and molars were analyzed. Associations between the total number of congenitally missing permanent teeth and mandibular incisor involvement were evaluated using Spearman's rank correlation and categorical analyses. Results Among 31,913 orthodontic patients, 228 were diagnosed with oligodontia, representing the largest single-institution cohort of Japanese patients reported to date. The prevalence of oligodontia was 0.7% overall (228/31,913), 0.2% during 1984-2011 (50/22,731), and 1.9% during 2012-2022 (178/9,182), the latter period coinciding with the introduction of national health insurance coverage for orthodontic treatment of oligodontia in Japan. Six missing teeth was the most common presentation, and case numbers decreased with increasing severity. Missing mandibular incisors were observed in 41.2% of patients overall (94/228) and in 93.3% of those with severe oligodontia (15-22 missing teeth) (14/15). Regardless of severity, agenesis of three mandibular incisors was the least common pattern (6-14 missing teeth: 5.0% [4/80]; 15-22 missing teeth: 7.1% [1/14]), whereas agenesis of two incisors was the most frequent (6-14 missing teeth: 50.0% [40/80]; 15-22 missing teeth: 50.0% [7/14]). The proportion of four missing mandibular incisors increased with greater overall severity. A significant positive correlation was identified between the total number of congenitally missing permanent teeth and the number of missing mandibular incisors (Spearman's r = 0.3961, p < 0.0001). Furthermore, severe mandibular incisor agenesis (3-4 missing incisors) was significantly more prevalent in patients with 15-22 missing teeth than in those with 6-14 missing teeth (40.0% (6/15) vs. 6.1% (13/213), p = 0.0005). Conclusions In Japanese patients with oligodontia, mandibular incisors are frequently affected, and both the prevalence and severity of mandibular incisor agenesis increase with the overall severity of congenitally missing teeth. These findings indicate site-specific susceptibility of the mandibular incisor region in patients with extensive oligodontia.
LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.
Oligodontia, the congenital absence of multiple permanent teeth, is frequently linked to LRP6 variants. However, the genotype-phenotype correlations remain unclear and non-European cohorts are underrepresented. The objectives of this study were to: (1) characterize the molecular and clinical features of LRP6 variants identified in unrelated Thai individuals with tooth agenesis; (2) conduct a scoping review of previously published cases; and (3) refine the understanding of LRP6 genotype-phenotype correlations. A detailed case series analysis of Thai families with congenital tooth agenesis (through exome sequencing and 3D protein modelling) was conducted, and functional validation was performed using computational structural prediction. A reviewed published cases of LRP6 variants was performed following a PRISMA-ScR-guided scoping review (2005-2025). p.Asp411Tyr, a novel heterozygous de novo missense change, destabilised the β-propeller domain. While Thai probands expanded the phenotype and genotype spectrum of LRP6-associated tooth agenesis, a review of 20 studies showed clustering of variants in β-propeller domains (62%), usually autosomal dominant (78%) but with variable penetrance. The phenotypes ranged from isolated oligodontia to syndromic forms. Thai probands displayed rare ectodermal-associated features (preauricular pits, dry skin) expanding the spectrum. LRP6 is a mutational hotspot in tooth development, with variable phenotypical expressivity and penetrance.
[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].
Axenfeld-Rieger syndrome/anomaly (ARS) is a rare genetic disorder with an autosomal dominant inheritance pattern, characterized by dysgenesis of the anterior segment of the eye. It may present with systemic anomalies (Axenfeld-Rieger syndrome) or without (Axenfeld anomaly) and may sometimes be associated with multiple congenital malformations. The estimated prevalence ranges from 1 in 50,000 to 1 in 200,000 live births, with an approximate rate of 1 in 100,000, but no epidemiological studies have been conducted to date. A clinical diagnosis of Axenfeld-Rieger syndrome requires the presence of both Axenfeld and Rieger ocular anomalies, accompanied by extraocular systemic features. Ocular manifestations include iris abnormalities, posterior embryotoxon, juvenile-onset glaucoma (a common complication), and dysgenesis of the iridocorneal angle with iridocorneal adhesions. The most commonly observed systemic anomalies include: umbilical defects; craniofacial dysmorphism; dentofacial abnormalities, such as Class III malocclusion due to maxillary hypoplasia, oligodontia, dental malformations (taurodontism, root dysplasia), microdontia, hypodontia, and anodontia; hearing impairment (partial or complete sensorineural hearing loss); and cardiac anomalies, including non-congenital heart disease and mitral valve insufficiency. Additional anomalies may include hypospadias in males, anal stenosis, endocrine disorders (notably growth retardation) secondary to pituitary dysfunction, psychomotor delay, and various neurological malformations such as Dandy-Walker malformation, mega cisterna magna, posterior fossa cysts, cerebellar vermis hypoplasia, ventriculomegaly, aprosencephaly, cerebral atrophy, microcephaly, arteriovenous malformations (AVM), and digital anomalies such as camptodactyly. Diagnosis is typically made in infancy, based on iris anomalies such as corectopia (displacement of the pupil), polycoria (multiple pupils), and iris hypoplasia. Posterior embryotoxon is frequently observed upon slit-lamp examination. Given the clinical variability, a comprehensive pediatric assessment is essential to identify systemic anomalies and distinguish Axenfeld-Rieger syndrome from the isolated Axenfeld anomaly.
Genetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology.
Tooth agenesis (TA), one of the most common craniofacial developmental anomalies, is characterized by the congenital absence of one or more teeth. While numerous genes have been implicated in non-syndromic tooth agenesis (NSTA), its genetic architecture often remains complex. In this study, we investigated the genetic basis of NSTA in a two-generation Chinese family utilizing whole-exome sequencing (WES) complemented by Sanger sequencing. Our analysis revealed a complex segregation pattern of multiple variants. After systematic filtering based on pathogenicity predictions and minor allele frequency (MAF), we identified eight potential contributory variants. These include homozygous missense variants in EDAR (c.1109 T > C), GHR (c.1630A > C), and COL17A1 (c.629C > T), a heterozygous missense variant in CEP152 (c.161C > T), and DSP (c.5213G > A) and three rare heterozygous missense variants in CCDC154 (c.925C > T), FRAS1 (c.9628G > A), and NBAS (c.5095G > A). Notably, the variants in GHR, CCDC154, FRAS1, and NBAS represent potential novel candidate genes for NSTA, thereby expanding the variant spectrum associated with this condition. The co-segregation of these multi-locus variants suggests that inheritancemightbe complex, perhaps involving oligogenic mechanisms. Thispoints to the possibilityof intricate genetic interactions in tooth development, offering new clues about the molecular basis of familial NSTA.
Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.
TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear. This study aimed at better delineating the allelic and clinical spectrum of TSPEAR-associated disorders. We identified homozygous and compound heterozygous causative variants in TSPEAR [NM_144991.3] in 11 patients from seven families. Abnormalities in tooth number and shape (conical teeth and tooth agenesis with a variable number of missing teeth) were found in all affected individuals. Maxillary retrusion was present in 6/11. Manifestations in other ectodermal-derived organs were seen in a minority of patients. None of the individuals had hearing loss. We identified a total of 10 variants, of which seven have not been previously published, and analyzed the effect of missense variants to support their pathogenicity. Our results demonstrate that individuals with biallelic variants in TSPEAR show complete penetrance for dental manifestations, but not for other ectodermal abnormalities. TSPEAR-related disorder is more common than previously thought, while hearing loss is not a feature of the disease.
Publicações recentes
Pediatric Dental Management of a Patient With Infantile Osteopetrosis in Remission: A Clinical Case Report.
Patterns of Mandibular Incisor Agenesis in Japanese Patients With Non-syndromic Oligodontia: A Retrospective Study.
LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.
Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.
📚 EuropePMC404 artigos no totalmostrando 198
Patterns of Mandibular Incisor Agenesis in Japanese Patients With Non-syndromic Oligodontia: A Retrospective Study.
CureusLRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.
International dental journalPrenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
GenesRetinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype.
Clinical genetics[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].
Journal francais d'ophtalmologieA case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights.
BMC medical genomicsTwo novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.
BMC oral healthGenetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology.
GeneDissecting the Genetic Contribution of Tooth Agenesis.
International journal of molecular sciencesGenotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.
American journal of medical genetics. Part ANovel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.
BMC oral healthA Novel Pathogenic TSPEAR Variant in a Family with Clinical Variability: Definition of Dental Anomalies and Review of the Literature.
Molecular syndromologyTechniques and outcomes in prosthetic rehabilitation for patients with ectodermal dysplasia: a systematic review.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryOligodontia Management in a Resource-Limited Setting: Two Case Reports and Review of Literature.
Case reports in dentistryGenetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.
International dental journalOral Rehabilitation of Ectodermal Dysplasia Using modified Groper's Appliance - A Case Report.
Indian journal of dental research : official publication of Indian Society for Dental ResearchOral rehabilitation with dental implants in patients with tooth agenesis: a retrospective study in Helsinki University Hospital, Helsinki, Finland.
Acta odontologica Scandinavica3D-guided grafting and implant reconstruction for severe oligodontia in an adolescent: a novel approach.
British dental journalMissense Variant Met119Val in ACTB in a Patient with Baraitser-Winter Syndrome Type 1 and Mild Intellectual Disability.
Molecular syndromologyApplication of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia.
Healthcare (Basel, Switzerland)Papilla and gingival outcomes in implant-rehabilitated patients with oligodontia: A retrospective study.
Journal of periodontologyA Novel KDF1 Variant is Associated With Multiple Natal Teeth, Tooth Agenesis, and Root Maldevelopment.
International dental journalKREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A Response.
The Journal of investigative dermatologyGenotype-phenotype analysis and functional study of three novel LRP6 variants in non-syndromic oligodontia.
Frontiers in geneticsNovel Use of Platelet-rich Fibrin in the Success of Posterior Transitional Implant Therapy: A Case Report with 2-year Follow-up.
International journal of clinical pediatric dentistryExpanding the Mutational Spectrum of TSPEAR in Ectodermal Dysplasia Type 14: A Familial Case Study.
GenesComplete-arch implant rehabilitation and adjunctive orthognathic surgery of a patient with hypohidrotic ectodermal dysplasia utilizing a digital workflow: A clinical report.
Journal of prosthodontics : official journal of the American College of ProsthodontistsXRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.
European journal of human genetics : EJHGLongitudinal Evaluation of Permanent Dental Anomalies in a Group of Yorkshire Terriers Referred for Dental Consultation.
Journal of veterinary dentistryAn Orthodontic Study of Non-syndromic Oligodontia: An Examination of Occlusion and Occlusal Support.
The Bulletin of Tokyo Dental CollegeTriad of Micrognathia, Oligodontia, and Ankyloglossia in a Non-Syndromic Individual: A Case Report with Rare Presentation.
Journal of pharmacy & bioallied sciencesEDA Mutations Causing X-Linked Recessive Oligodontia with Variable Expression.
GenesIsolated hypoglossia: Oromandibular Limb Hypogenesis Syndrome Type 1 A - A Rare Case Report.
Journal of clinical and experimental dentistryFingerprint Sweat Pore Density in Patients with Oligodontia: A Controlled Clinical Trial.
BiomedicinesDigital planning and decision making for severe congenital oligodontia with Angle class-III malocclusion.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryCritical Considerations in Calling Disease-Causing EDAR Mutations in Nonsyndromic Oligodontia.
Journal of clinical medicineUncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
medRxiv : the preprint server for health sciencesAgenesis of all premolars - the first reported case.
Journal of oral and maxillofacial pathology : JOMFPOral Rehabilitation After Maxillary Protraction With Skeletal Anchorage in a Patient With Oligodontia.
The Journal of craniofacial surgeryDoes It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.
American journal of medical genetics. Part ARehabilitation of Nonsyndromic Oligodontia in Deciduous Dentition Using Modified Hollywood Bridge - A Case Report.
Indian journal of dental research : official publication of Indian Society for Dental ResearchPeriocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.
Orbit (Amsterdam, Netherlands)EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.
International journal of molecular sciencesDevelopment of a new antibody drug to treat congenital tooth agenesis.
Journal of oral biosciencesA novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9variants.
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyMasticatory function in growing individuals with hypohidrotic ectodermal dysplasia: A longitudinal study.
International journal of paediatric dentistryPre-implant surgery complexity for achieving implant-supported prosthetic rehabilitation in oligodontia patients: a retrospective study.
BMC oral healthTreatment strategy for patient with non-syndromic tooth agenesis: a case report and literature review.
BMC oral healthPatterns of tooth agenesis in individuals with Down syndrome: A secondary analysis using the Tooth Agenesis Code.
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 DentistryOrthodontic Treatment of a Patient With Non-Syndromic Oligodontia and a Skeletal Class Ⅲ Relationship: A Case Report and Six Years' Follow-Up.
CureusEnamel hypoplasia with nonsyndromic oligodontia: A rare case report.
Journal of conservative dentistry and endodonticsInterdisciplinary management of Type 3 oligodontia: A retrospective case series.
The Journal of prosthetic dentistryA Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.
Clinical, cosmetic and investigational dermatologyA novel WNT10A variant impairs the homeostasis of alveolar bone mesenchymal stem cells.
Oral diseasesNon-syndromic tooth agenesis in Latvian adolescent dental patients: a retrospective study with relevant literature review.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryA polyetheretherketone framework removable partial denture for a 6-year-old child with nonsyndromic oligodontia made using glass-ceramic hemispheres to enhance retention: A clinical report.
The Journal of prosthetic dentistryHair Evaluation in Orthodontic Patients with Oligodontia.
Diagnostics (Basel, Switzerland)Orodental malformations associated with human MSX1 sequence variants.
Journal of the American Dental Association (1939)Dental anomalies in craniofacial microsomia and condylo-mandibular dysplasia: A retrospective study of 103 patients.
Journal of stomatology, oral and maxillofacial surgeryBimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: a case report.
Annals of medicine and surgery (2012)Personalized and Complex Esthetic Oral Rehabilitation in a Case of Non-Syndromic Oligodontia.
Journal of personalized medicineA 10-year-old boy with class II oligodontia treated with buccal fixed appliances and agenesis space closure of the four second premolars: Case report No. 230075 - Titularisation Collège Européen Orthodontie (CEO), European College of Orthodontics.
International orthodontics[Multi-disciplinary treatment of oligodontia: a case report].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyTooth agenesis related to a novel KDF1 variant: A case report and literature review.
Oral diseasesClinical analysis of nonsyndromic oligodontia phenotypes.
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyDifficulties experienced by dentists and orthodontists regarding ethical issues when announcing the diagnosis of a rare oral disease: a qualitative study in Marseille, France.
European archives of paediatric dentistry : official journal of the European Academy of Paediatric DentistryA Conservative Approach towards Aesthetic, Functional, and Psychological Management of Non-Syndromic Oligodontia Patient: A Case Report with 12-Year Follow-up.
Journal of the West African College of SurgeonsNovel PAX9 Mutations Causing Isolated Oligodontia.
Journal of personalized medicineNovel variant in LRP6 associated with unusual and severe clinical presentation: Case report.
Clinical geneticsThe oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant.
HeliyonOligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.
Dentistry journalWhole genome sequencing in families with oligodontia.
Oral diseasesCharacterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.
Molecular genetics & genomic medicineGlobal Trends and Hotspots in Research on Tooth Agenesis: A 20-Year Bibliometric Analysis.
CureusOrthodontic Treatment of Palatally Impacted Canines in Severe Non-Syndromic Oligodontia with the Use of Mini-Implants: A Case Report.
Medicina (Kaunas, Lithuania)Psychosocial and Behavioral Impact of Three Clinical Presentations of Oligodontia in a Tertiary Hospital.
The International journal of prosthodonticsAssociations across 22 dental and craniovertebral anomalies or variations, sagittal skeletal relationships, and vertical growth patterns: a comprehensive epidemiological study of 43 dentoskeletal traits.
BMC oral healthArthrogryposis multiplex congenita: dental and maxillofacial phenotype - A scoping review.
BoneThree-Dimensional Navigation-Assisted Open Reduction and Internal Fixation of a Subcondylar and Ramus Fracture on a Maxillary Oligodontia Patient.
The Journal of craniofacial surgery[The enigma of Henry IV's disease: Did he suffer from McCune-Albright syndrome/fibrous dysplasia?].
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaIs there an association between molar incisor hypomineralization and developmental dental anomalies? A case-control study.
BMC oral healthIdentification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing.
Frontiers in geneticsDiagnosis and Management of Papillon-Lefevre Syndrome: A Rare Case Report and a Brief Review of Literature.
CureusA new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism.
Genes & genetic systemsNew observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G.
Molecular genetics & genomic medicineReduced bone dimension in patients affected by oligodontia: A retrospective study on maxillary and mandibular CBCT.
Journal of clinical periodontologyA novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.
Hereditary cancer in clinical practiceSevere oligodontia: Towards fully planned pre-prosthetic surgery.
Journal of stomatology, oral and maxillofacial surgeryThe Impact of Genetic Variability of TGF-Beta Signaling Biomarkers in Major Craniofacial Syndromes.
Advances in experimental medicine and biologyA novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
Bone reportsMesiodistal angulation and developmental stages of unerupted mandibular second premolars in nonsyndromic oligodontia.
American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of OrthodonticsPhenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family.
Archives of oral biology[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
HarefuahNon-syndromic Oligodontia in Primary Dentition: A Report of a Rare Case.
CureusMolecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.
GenesSolitary median maxillary central incisor in association with taurodontism and oligodontia: A case report.
Clinical case reportsThe Quebec Dental Anomalies Registry: Identifying genes for rare disorders.
PNAS nexusA comparative retrospective study on the prevalence and therapeutic treatment of dental agenesis between healthy children and children with systemic disease or congenital malformation.
BMC pediatricsFive-Year Follow-Up of a Child with Non-Syndromic Oligodontia from before the Primary Dentition Stage: A Case Report.
Children (Basel, Switzerland)The phenotype and genotype of PAX9 mutations causing tooth agenesis.
Clinical oral investigationsOral health-related quality of life in patients with oligodontia: A FACE-Q assessment.
Journal of dentistryTooth agenesis patterns and variants in PAX9: A systematic review.
The Japanese dental science reviewImplants as a treatment alternative in children with multiple agnesia: Systematic review and meta-analysis.
Journal of clinical and experimental dentistryHypohidrotic ectodermal dysplasia: A rare entity.
Journal of oral and maxillofacial pathology : JOMFPLRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.
JBMR plusGenotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia.
Frontiers in geneticsPAX9 mutations and genetic synergism in familial tooth agenesis.
Annals of the New York Academy of SciencesAssociation of congenitally missing teeth with adult temporomandibular disorders in the urban health checkup population.
BMC oral healthNovel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants.
Journal of applied oral science : revista FOBRemovable prosthetic management for tooth agenesis in the pediatric population: A systematic review of case reports and case series.
The Journal of prosthetic dentistryAssociation of Site-specific Tooth Absence with Severity of Oral Health-related Quality of Life Impacts in Girls Having Nonsyndromic Oligodontia.
Pediatric dentistryAXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Molecular genetics & genomic medicineEffects of Wnt10a and Wnt10b Double Mutations on Tooth Development.
GenesDental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency.
Children (Basel, Switzerland)Pre-implant and implant management of oligodontia patients: A 10-year retrospective study.
Journal of stomatology, oral and maxillofacial surgeryA Multidisciplinary Approach for Full-Mouth Rehabilitation in Oligodontia: A Clinical Report.
The Journal of oral implantologyNovel WNT10A variant in a Japanese case of nonsyndromic oligodontia.
Human genome variationAn inclusive study of deleterious missense PAX9 variants using user-friendly tools reveals structural, functional alterations, as well as potential therapeutic targets.
International journal of biological macromoleculesPatterns of nonsyndromic tooth agenesis and sexual dimorphism.
BMC oral healthBMPR2 Variants Underlie Nonsyndromic Oligodontia.
International journal of molecular sciencesDental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature.
BMC oral healthOligodontia and Facial Phenotype Associated with a Rare Syndrome.
Case reports in dentistryDental Anomalies in a Sample of Lebanese Children: a Retrospective Study.
Materia socio-medicaFixed prosthodontic rehabilitation for an adolescent patient with ectodermal dysplasia using a fully digital workflow: Two-year follow-up.
The Journal of prosthetic dentistrySurgical bone augmentation procedures for oral rehabilitation of patients with oligodontia: A review with a systematic approach.
Journal of stomatology, oral and maxillofacial surgeryDetection of a rare AXIN2 variant in an Iranian family with hypodontia and oligodontia.
Journal of dental research, dental clinics, dental prospectsA Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome.
Diagnostics (Basel, Switzerland)AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Genes, chromosomes & cancerMSX1 involved selective tooth agenesis and abnormal labial frenum, pedigree, and retrospective study.
Oral diseasesNovel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.
Journal of clinical medicineAxenfeld-Rieger syndrome in monozygotic twin brothers: Case report.
Northern clinics of IstanbulWNT10A and RUNX2 mutations associated with non-syndromic tooth agenesis.
European journal of oral sciencesNovel LRP6 Mutations Causing Non-Syndromic Oligodontia.
Journal of personalized medicineFontaine progeroid syndrome-A case report.
Clinical case reportsA large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia.
Acta veterinaria ScandinavicaFirst cases of oligodontia as a manifestation of the Zika virus congenital syndrome.
Oral surgery, oral medicine, oral pathology and oral radiologyWNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer.
Clinical oral investigationsDental and Maxillofacial Manifestations of Axenfeld-Rieger Syndrome: Presentation of a Case in a 5-Year-Old Girl.
Case reports in dentistryAxenfeld-Rieger syndrome: more than meets the eye.
Journal of medical geneticsThe Profile of Articles on AXIN2 Mutations, Oligodontia, and Ethical Statements in Dental Research.
Journal of empirical research on human research ethics : JERHRENon-syndromic familial congenital dental deficiency: two cases report.
Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatologyNatural history of KBG syndrome in a large European cohort.
Human molecular geneticsRare non-syndromic bilateral maxillary and mandibular permanent canine agenesis.
Clinical case reportsEctodermal dysplasia: important role of complex dental care in its interdisciplinary management.
European journal of paediatric dentistryThe Human Genetics of Dental Anomalies.
Global medical geneticsDetection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia.
Oral diseasesA new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.
Clinical and experimental dermatologyNumber of Teeth Is Related to Craniofacial Morphology in Humans.
BiologyRehabilitation Considerations for Very Young Children with Severe Oligodontia due to Ectodermal Dysplasia: Report of Three Clinical Cases with a 2-Year Follow-Up.
Case reports in dentistryInterdisciplinary dental management of patient with oligodontia and maxillary hypoplasia: a case report.
BMC oral healthPatterns of molar agenesis associated with p.P20L and p.R77Q variants in PAX9.
European journal of oral sciencesDigital Implant Planning in Patients with Ectodermal Dysplasia: Clinical Report.
International journal of environmental research and public healthLong-term follow-up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
American journal of medical genetics. Part ABiallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
HGG advancesEctodysplasin A/Ectodysplasin A Receptor System and Their Roles in Multiple Diseases.
Frontiers in physiologyA Hybrid Oral Rehabilitation of Hypohidrotic Ectodermal Dysplasia: A Conservative Approach with Three-Year Follow-Up.
Case reports in dentistryProphylactic subtotal colectomy in a patient with an AXIN2 mutation.
Journal of surgical case reportsEvaluation of the effects of hypodontia on the morphology of craniofacial structures.
Orthodontics & craniofacial researchSynergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis.
Journal of personalized medicineMaxillofacial morphological characteristics in growing orthodontic patients with non-syndromic oligodontia.
Orthodontics & craniofacial researchRare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Familial cancerFamilial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Familial cancerResearch algorithm for the detection of genetic patterns and phenotypic variety of non-syndromic dental agenesis.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieAnalyses of oligodontia phenotypes and genetic etiologies.
International journal of oral scienceGene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
GenesFunctional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation.
Stem cells internationalOutcomes of dental implants in young patients with congenital versus non-congenital missing teeth.
International journal of implant dentistryInterim three-dimensional printed overlay prosthesis for an adolescent patient with oligodontia.
Journal of Indian Prosthodontic SocietyUse of a Modified Nance Appliance for Esthetic Rehabilitation of a Child Patient with Rare Nonfamilial and Nonsyndromic Oligodontia.
Case reports in dentistryNovel MSX1 frameshift mutation in a Japanese family with nonsyndromic oligodontia.
Human genome variationA novel LRP6 variant in a Japanese family with oligodontia.
Human genome variationConsecutive tooth agenesis patterns in non-syndromic oligodontia.
OdontologyGastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation.
Oral diseasesEruption of Bioengineered Teeth: A New Approach Based on a Polycaprolactone Biomembrane.
Nanomaterials (Basel, Switzerland)Novel homozygous KREMEN1 mutation causes ectodermal dysplasia.
Oral diseasesX-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA.
Animals : an open access journal from MDPIEvolutionary implications of dental anomalies in bats.
Evolution; international journal of organic evolutionTargeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.
Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur KieferorthopadieAdjunctive orthodontic therapy for prosthetic rehabilitation in a growing child with Axenfeld-Rieger syndrome: A 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 DentistrySatisfaction with resilient denture liner versus acrylic resin telescopic prostheses for patients with ectodermal dysplasia: A nonrandomized crossover clinical trial.
The Journal of prosthetic dentistryStaged autogenous calvarial bone grafting and dental implants placement in the management of oligodontia: a retrospective study of 20 patients over a 12-year period.
International journal of oral and maxillofacial surgeryIdentification of OPN3 as associated with non-syndromic oligodontia in a Japanese population.
Journal of human genetics[Identification of a novel mutation of the PAX9 gene and clinical treatment in a nonsyndromic oligodontia family].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyEvaluation of third molar agenesis associated with hypodontia and oligodontia in turkish pediatric patients.
European oral researchSexual dimorphism of tooth agenesis patterns in non-syndromic oligodontia in Japanese patients.
Archives of oral biologyComprehensive Management of Ectodermal Dysplasia with Interceptive Orthodontics in a Young Boy Who Was Bullied at School.
Case reports in dentistryAre developmentally missing teeth a predictive risk marker of malignant diseases in non-syndromic individuals? A systematic review.
Journal of orthodonticsNovel MSX1 variants identified in families with nonsyndromic oligodontia.
International journal of oral scienceImplant-supported provisional prosthesis facilitated the minor revision of occlusion and incisor exposure after orthognathic surgery of extended oligodontia in maxilla.
Journal of dental sciencesFunctional characterization of ATF1, GREM2 AND WNT10B variants associated with tooth agenesis.
Orthodontics & craniofacial researchThe molecular genetics of selective tooth agenesis.
JPMA. The Journal of the Pakistan Medical AssociationPhenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants.
Frontiers in physiologyInterdisciplinary management of nonsyndromic tooth agenesis in the digital age.
Journal of the American Dental Association (1939)Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Journal of human genetics[Indirect resin composites - a new material option when restoring malformed teeth].
Swiss dental journalTooth agenesis: What do we know and is there a connection to cancer?
Clinical geneticsLrp6 Dynamic Expression in Tooth Development and Mutations in Oligodontia.
Journal of dental researchOral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis.
Journal of clinical medicineAssociações
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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.
- Patterns of Mandibular Incisor Agenesis in Japanese Patients With Non-syndromic Oligodontia: A Retrospective Study.
- LRP6 β-Propeller Destabilization: Novel Variant, Phenotype and Diagnostic Implications in Tooth Agenesis.
- [National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].
- Genetic analysis of a Chinese family with non-syndromic tooth agenesis may reveal a potential multi-locus etiology.
- Genotypes and Phenotypes of Patients With TSPEAR-Related Disorder: Evidence of a Predominant Dental Phenotype.
- Pediatric Dental Management of a Patient With Infantile Osteopetrosis in Remission: A Clinical Case Report.
- Prenatal Identification of an EDA Variant in Dichorionic Male Twins: CfDNA Signal with Invasive Confirmation.
- Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99798(Orphanet)
- MONDO:0005486(MONDO)
- GARD:16908(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1549421(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
