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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Detalles Bibliográficos
Autores principales: Zhang, Runfeng, Jia, Peng, Yao, Yanyi, Zhu, Feng
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/PMC9452731/
https://www.ncbi.nlm.nih.gov/pubmed/36092876
http://dx.doi.org/10.3389/fgene.2022.933785

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452731/
https://www.ncbi.nlm.nih.gov/pubmed/36092876
http://dx.doi.org/10.3389/fgene.2022.933785

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