Article

A Novel Loss-of-function Pathogenic Missense Mutation in CASK Gene Causes Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia

2021-05-05

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Mutations in the<italic> CASK </italic>gene<italic> </italic>result in a wide range of observed phenotypes in humans like FG Syndrome 4 and mental retardation. In this study, researchers investigated the case of an 11-month-old female diagnosed with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). These issues caused general d...

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Literature Corpus work: b68c4b23-99c5-5a02-8f49-3760e9b6bdc8
DOI: 10.21203/rs.3.rs-470544/v1

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