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

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 funct...

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Detalles Bibliográficos
Autores principales: Zhang, Ying, Nie, Yanyan, Mu, Yu, Zheng, Jie, Xu, Xiaowei, Zhang, Fang, Shu, Jianbo, Liu, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097383/
https://www.ncbi.nlm.nih.gov/pubmed/35550617
http://dx.doi.org/10.1186/s13052-022-01248-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097383/
https://www.ncbi.nlm.nih.gov/pubmed/35550617
http://dx.doi.org/10.1186/s13052-022-01248-z

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