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Article

Clinical and genetic spectrum of CASK-related disorders in Chinese patients.

Journal of neurology - 14 May 2026

Chen Yueyao, Cao Jiyang, Li Juan, Wang Gangqi, Que Yating, Chai Wen, Yuan Yu, Dai Yuwei, Peng Ying, Long Hongyu, Luo Zhaohui, Xiao Bo, Wang Hua, Guo Danni, Long Lili

Abstract excerpt

BACKGROUND: CASK-related disorders are rare X-linked neurological conditions. Heterozygous and hemizygous variants in the CASK gene located at Xp11.4 are strongly associated with developmental delay and intellectual disability. However, no long-term clinical information has been reported in the Chinese population. Here, we delineated the clinical and genetic characteristics of 21 Chinese patients with CASK...

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Identifiers

PMID: 42133085
DOI: 10.1007/s00415-026-13637-z

Genes

CASK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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