title: [Clinical and molecular genetic investigation of Waardenburg syndrome type 1].
abstract: Hypoacusis is a common sensory defect in humans which creates problems in communication. Heredity is essential in etiology of hypoacusis and deafness. Genes PAX3 and MITF were studied in patients with Vaardenburg syndrome in 14 unrelated families. Five mutation defects in the gene PAX3 were found. This provided the final diagnosis of the syndrome in these families.
authors.forename: T G
authors.initials: TG
authors.lastname: Markova
authors.forename: S M
authors.initials: SM
authors.lastname: Megrelishvilli
authors.forename: S P
authors.initials: SP
authors.lastname: Shevtsov
authors.forename: E I
authors.initials: EI
authors.lastname: Shvarts
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D015870:Gene Expression / Q000235:genetics; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D051739:Microphthalmia-Associated Transcription Factor; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D017354:Point Mutation / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D004268:DNA-Binding Proteins; C497234:MITF protein, human; D051739:Microphthalmia-Associated Transcription Factor; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse