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Article

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

Molecular genetics & genomic medicine - 1 Nov 2022

Yang Kunfang, Lin Longlong, Yuan Fang, Li Xiaoguang, Liu Zhiping, Lan Xiaoping, Wang Yilin, Ren Yun, Li Jiaoyan, Chen Yucai

Abstract excerpt

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 mutational analyses, relevant data in 2 Han Chinese patients were collected and analyzed. Real-time quantitative PCR (RT-qPCR)...

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Identifiers

PMID: 36168867
DOI: 10.1002/mgg3.2065
PMCID: PMC9651610

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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