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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Publicado en:Mol Genet Genomic Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Original Articles
Acceso en liña: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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