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

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:
MITF
next‐generation sequencing
SOX10
Waardenburg syndrome
Online Access:https://doi.org/10.1002/mgg3.1128

Internet

https://doi.org/10.1002/mgg3.1128

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