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

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

Abstract 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...

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Bibliographic Details
Main Authors: Ying Zhang, Yanyan Nie, Yu Mu, Jie Zheng, Xiaowei Xu, Fang Zhang, Jianbo Shu, Yang Liu
Format: Article
Language:English
Published: BMC 2022-05-01
Series:Italian Journal of Pediatrics
Subjects:
CASK gene
Gene variant
Intellectual disability
Brain dysplasia
Microcephaly
Online Access:https://doi.org/10.1186/s13052-022-01248-z

Internet

https://doi.org/10.1186/s13052-022-01248-z

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