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A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2

Waardenburg syndrome is an autosomal dominant inherited syndromic hereditary hearing loss characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair, skin, and inner ear. The aim of this study was to analyze the clinical phenotypes and genetic variants...

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Detalles Bibliográficos
Autores principales:	Guo, Min, Li, Qing, Jiang, Chaowu, Li, Shuling, Ruan, Biao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	European Academy of Otology and Neurotology and the Politzer Society 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10331715/ https://www.ncbi.nlm.nih.gov/pubmed/37272645 http://dx.doi.org/10.5152/iao.2023.22745

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