Associated Papers
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
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
Microcephaly, disproportionate pontine, and cerebellar hypoplasia syndrome: Two novel mutations in the CASK gene were discovered in Chinese females.
Zhao J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Seto T et al.
Intractable & Rare Diseases Research, 2017
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hayashi S et al.
Plos One, 2017
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U et al.
Orphanet Journal of Rare Diseases, 2015
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.
Takanashi J et al.
American Journal of Medical Genetics. Part A, 2012
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
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U et al.
Journal of Medical Genetics, 2011
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