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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005642/
https://www.ncbi.nlm.nih.gov/pubmed/31885220
http://dx.doi.org/10.1002/mgg3.1100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005642/
https://www.ncbi.nlm.nih.gov/pubmed/31885220
http://dx.doi.org/10.1002/mgg3.1100

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