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
CASK related disorder: Epilepsy and developmental outcome.
Giacomini T et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
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
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