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

ConclusionFemale heterozygous carriers with nonsense mutation with a truncated ZC4H2 protein could lead to the pathogenesis of Wieacker ‐Wolff syndrome and our study provides a potential new target for the disease treatment.

Source: Molecular Genetics & Genomic Medicine - December 29, 2019 Category: Genetics & Stem Cells Authors: Dan Wang, Dongjie Hu, Zhichao Guo, Rong Hu, Qunxian Wang, Yannan Liu, Mingjing Liu, Zijun Meng, Huan Yang, Yun Zhang, Fang Cai, Weihui Zhou, Weihong Song Tags: ORIGINAL ARTICLE Source Type: research