Case report: A novel CASK mutation in a Chinese female child with microcephaly with pontine and cerebellar hypoplasia

Objective: Microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare X-linked dominant genetic disease, and most MICPCHs are ascribed to CASK mutations, while few are revealed in Chinese patients. This study aims to identify the pathogenic mutation in a Chinese proband with MICPCH. Meth...

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Detalles Bibliográficos
Autores principales: Xie, Guilan, Zhang, Yan, Yang, Wenfang, Yang, Liren, Wang, Ruiqi, Xu, Mengmeng, Sun, Landi, Zhang, Boxing, Cui, Xiaoyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490368/
https://www.ncbi.nlm.nih.gov/pubmed/36159992
http://dx.doi.org/10.3389/fgene.2022.856636

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490368/
https://www.ncbi.nlm.nih.gov/pubmed/36159992
http://dx.doi.org/10.3389/fgene.2022.856636

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