Identification of six novel variants in Waardenburg syndrome type II by next‐generation sequencing

Abstract Background Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory‐pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families...

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Bibliografische Detailangaben

Hauptverfasser:	Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2020-03-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Schlagworte:	MITF next‐generation sequencing SOX10 Waardenburg syndrome
Online-Zugang:	https://doi.org/10.1002/mgg3.1128
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