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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Original Articles
Sarrera elektronikoa: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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