Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the <i>ZC4H2</i> Gene

Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the <i>ZC4H2</i> Gene

Pathogenic variants of zinc finger C4H2-type containing (<i>ZC4H2</i>) on the X chromosome cause a group of genetic diseases termed ZC4H2-associated rare disorders (ZARD), including Wieacker-Wolff Syndrome (WRWF) and Female-restricted Wieacker-Wolff Syndrome (WRWFFR). In the current stud...

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Bibliographic Details
Main Authors: Jing-Jing Sun, Qin Cai, Miao Xu, Yan-Na Liu, Wan-Rui Li, Juan Li, Li Ma, Cheng Cai, Xiao-Hui Gong, Yi-Tao Zeng, Zhao-Rui Ren, Fanyi Zeng
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Genes
Subjects:
WRWF
WRWFFR
ZC4H2
nonsense mutation
Online Access:https://www.mdpi.com/2073-4425/13/9/1558

Internet

https://www.mdpi.com/2073-4425/13/9/1558

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