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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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 em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados