A novel de novo nonsense mutation in ZC4H2 causes Wieacker‐Wolff Syndrome

A novel de novo nonsense mutation in ZC4H2 causes Wieacker‐Wolff Syndrome

Abstract Background Wieacker‐Wolff syndrome (WWS) is a congenital X‐linked neuromuscular disorder, which was firstly reported in 1985. Zinc finger C4H2‐type containing (ZC4H2) gene has been found to be associated with the disease pathogenesis. However, the underlying mechanism remains elusive. Metho...

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Bibliographic Details
Main Authors: Dan Wang, Dongjie Hu, Zhichao Guo, Rong Hu, Qunxian Wang, Yannan Liu, Mingjing Liu, Zijun Meng, Huan Yang, Yun Zhang, Fang Cai, Weihui Zhou, Weihong Song
Format: Article
Language:English
Published: Wiley 2020-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Arthrogryposis multiplex congenita
nonsense mutation
Wieacker‐Wolff syndrome
X‐chromosome inactivation
ZC4H2
Online Access:https://doi.org/10.1002/mgg3.1100

Internet

https://doi.org/10.1002/mgg3.1100

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