Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II

Abstract Background Waardenburg syndrome (WS) is a rare autosomal‐dominant syndrome and is characterized by sensorineural hearing loss and pigment abnormalities. It is subdivided into four types according to the clinical characteristics. MITF is one of the major pathogenic genes for type II. The aim...

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Bibliographic Details
Main Authors: Jing Wang, Yu Lu, Xiaohong Yan, Tian Shen, Linke Li, Yufang Rao, Bo Tan, Wenyu Xiong, Jing Cheng, Yu Zhao, Huijun Yuan
Format: Article
Language:English
Published: Wiley 2021-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
incomplete penetrance
MITF
sensorineural hearing loss
Waardenburg syndrome
Online Access:https://doi.org/10.1002/mgg3.1770

Internet

https://doi.org/10.1002/mgg3.1770

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