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Article

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.

Italian journal of pediatrics - 12 May 2022

Zhang Ying, Nie Yanyan, Mu Yu, Zheng Jie, Xu Xiaowei, Zhang Fang, Shu Jianbo, Liu Yang

Abstract excerpt

BACKGROUND: The pathogenic variation of CASK gene can cause CASK related mental disorders. The main clinical manifestations are microcephaly with pontine and cerebellar hypoplasia, X-linked mental disorders with or without nystagmus and FG syndrome. The main pathogenic mechanism is the loss of function of related protein caused by variant. We reported a Chinese male newborn with a de novo variant in CASK gene....

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Identifiers

PMID: 35550617
DOI: 10.1186/s13052-022-01248-z
PMCID: PMC9097383

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