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Article

Novel CASK mutations in cases with syndromic microcephaly.

Human mutation - 1 Jul 2018

Cristofoli Francesca, Devriendt Koen, Davis Erica E, Van Esch Hilde, Vermeesch Joris R

Abstract excerpt

Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of genetic information and population-based data remains a challenge. Using whole exome sequencing, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29691940
DOI: 10.1002/humu.23536
PMCID: PMC5995665

Genes

CASK

Provenance

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