Pathogenic variants in CASK : Expanding the genotype–phenotype correlations
Author:
Affiliation:
1. Division of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA
2. Departments of Neurology and Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62863
Reference23 articles.
1. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient
2. Novel CASK mutations in cases with syndromic microcephaly
3. A de novo splice site mutation inCASKcauses FG syndrome-4 and congenital nystagmus
4. CASK related disorder: Epilepsy and developmental outcome
5. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
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