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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

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