Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders

Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders

Abstract Background The calcium/calmodulin‐dependent serine protein kinase gene (CASK) is an essential gene in mammals, critical for neurodevelopment. The purpose of this study is to expand the understanding of the diagnosis of CASK‐linked disorders. Materials/Methods From clinical and genetic mutat...

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Bibliographic Details
Main Authors: Kunfang Yang, Longlong Lin, Fang Yuan, Xiaoguang Li, Zhiping Liu, Xiaoping Lan, Yilin Wang, Yun Ren, Jiaoyan Li, Yucai Chen
Format: Article
Language:English
Published: Wiley 2022-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CASK
developmental disorder
Han Chinese
microcephaly
X‐chromosome inactivation
Online Access:https://doi.org/10.1002/mgg3.2065

Internet

https://doi.org/10.1002/mgg3.2065

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