Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2

OBJECTIVE: Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. METHODS:...

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Detalles Bibliográficos
Autores principales: Liu, Xiao-Wen, Wang, Su-Yang, Xing, Zhan-Kui, Zhu, Yi-Ming, Ding, Wen-Juan, Duan, Lei, Cui, Xiao, Xu, Bai-Cheng, Li, Shu-Juan, Guo, Yu-Fen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708717/
https://www.ncbi.nlm.nih.gov/pubmed/33251892
http://dx.doi.org/10.1177/0300060520967540

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708717/
https://www.ncbi.nlm.nih.gov/pubmed/33251892
http://dx.doi.org/10.1177/0300060520967540

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