Article

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: A Case Report and Literature Review

2021-03-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background：</bold>The pathogenic variation of <italic>CASK</italic> gene can cause <italic>CASK</italic> 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 mutation....

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Literature Corpus work: cd299bdc-acd6-5e83-9914-720a20750acf
DOI: 10.21203/rs.3.rs-317232/v1

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