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

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. METHODS: Whol...

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Publicat a:Mol Genet Genomic Med
Autors principals: Wang, Dan, Hu, Dongjie, Guo, Zhichao, Hu, Rong, Wang, Qunxian, Liu, Yannan, Liu, Mingjing, Meng, Zijun, Yang, Huan, Zhang, Yun, Cai, Fang, Zhou, Weihui, Song, Weihong
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005642/
https://ncbi.nlm.nih.gov/pubmed/31885220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1100
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