Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH

Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH

Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is a rare genetic disorder that results in varying levels of pontocerebellar hypoplasia, microcephaly, and severe intellectual disabilities. Prior genetic analyses have identified the CASK gene as a driver of MICPCH....

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Bibliographic Details
Main Authors: Runfeng Zhang, Peng Jia, Yanyi Yao, Feng Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Genetics
Subjects:
CASK gene
spinocerebellar ataxia
mutation
whole-exome sequencing
mental retardation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.933785/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.933785/full

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