Associated Papers
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein.
Patel PA et al.
Journal of Medical Genetics, 2024
Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
Mori T et al.
Genes, 2023
Structural Analysis Implicates CASK-Liprin-α2 Interaction in Cerebellar Granular Cell Death in MICPCH Syndrome.
Guo Q et al.
Cells, 2023
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
Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH.
Zhang R et al.
Frontiers in Genetics, 2022
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
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