Associated Papers
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.
Abe-Hatano C et al.
Molecular Syndromology, 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
A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly.
Seto T et al.
Intractable & Rare Diseases Research, 2017
Phenotypic and molecular insights into CASK-related disorders in males.
Moog U et al.
Orphanet Journal of Rare Diseases, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.
Nakamura K et al.
Brain & Development, 2014
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H et al.
Epilepsia, 2013
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Saitsu H et al.
Epilepsia, 2012
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Piton A et al.
Molecular Psychiatry, 2011
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