Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
Patel PA et al.
Journal of Medical Genetics, 2024
Pathogenic variants in CASK: Expanding the genotype-phenotype correlations.
Dubbs H et al.
American Journal of Medical Genetics. Part A, 2022
A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review.
Zhang Y et al.
Italian Journal of Pediatrics, 2022
Novel CASK mutations in cases with syndromic microcephaly.
Cristofoli F et al.
Human Mutation, 2018
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Seto T et al.
Intractable & Rare Diseases Research, 2017
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.
Burglen L et al.
Orphanet Journal of Rare Diseases, 2012
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S et al.
Human Genetics, 2012
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
Hackett A et al.
European Journal of Human Genetics : Ejhg, 2010
Calcium/calmodulin-dependent serine protein kinase and mental retardation.
Hsueh YP
Annals of Neurology, 2009
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Najm J et al.
Nature Genetics, 2008
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