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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Bibliographic Details
Main Authors: Shumin Ren, Xiaojie Chen, Xiangdong Kong, Yibing Chen, Qinghua Wu, Zhihui Jiao, Huirong Shi
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1128