Search results for "Waardenburg Syndrome Type I"

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Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family

2016

Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. Material and Methods: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Results: The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members show…

0301 basic medicineWaardenburg Syndrome Type IPAX3OdontologíaEsthetics DentalGenetic analysis03 medical and health sciencesMedicineHumansWaardenburg SyndromeGeneral DentistryPAX3 Transcription FactorGeneticsDental Enamel HypoplasiaOral Medicine and Pathologybusiness.industryWaardenburg syndromeResearchExtended familymedicine.disease:CIENCIAS MÉDICAS [UNESCO]PhenotypeCiencias de la saludPedigreestomatognathic diseases030104 developmental biologyPhenotypeOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASSurgeryDental Enamel Hypoplasiabusiness
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Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

2009

GeneticsMaleEndothelin-3Waardenburg Syndrome Type IVBase SequenceGenotypeGenetic heterogeneitySOXE Transcription FactorsDNA Mutational AnalysisMolecular Sequence DataBiologyModels BiologicalPedigreeConsanguinityGenetic HeterogeneityPhenotypeGeneticsHumansWaardenburg SyndromeAmino Acid SequenceHirschsprung DiseaseChildGenetics (clinical)American journal of medical genetics. Part A
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