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

Pathogenic variants of zinc finger C4H2-type containing (ZC4H2) 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 study, a de novo c.352C...

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Detalles Bibliográficos
Autores principales: Sun, Jing-Jing, Cai, Qin, Xu, Miao, Liu, Yan-Na, Li, Wan-Rui, Li, Juan, Ma, Li, Cai, Cheng, Gong, Xiao-Hui, Zeng, Yi-Tao, Ren, Zhao-Rui, Zeng, Fanyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498907/
https://www.ncbi.nlm.nih.gov/pubmed/36140726
http://dx.doi.org/10.3390/genes13091558

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498907/
https://www.ncbi.nlm.nih.gov/pubmed/36140726
http://dx.doi.org/10.3390/genes13091558

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