A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1

PURPOSE: Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). METHODS: WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected m...

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Detalles Bibliográficos
Autores principales: Hazan, Filiz, Ozturk, A.Taylan, Adibelli, Hamit, Unal, Nurettin, Tukun, Ajlan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559089/
https://www.ncbi.nlm.nih.gov/pubmed/23378733

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