Article

Sex-specific genotype-phenotype landscape and prevalence of <i>CASK</i> -related disorder

2026-08-14

Abstract excerpt

Disruptions to synaptic proteins cause a diverse group of rare monogenic neurodevelopmental disorders, yet their genetic architecture, genotype-phenotype relationships, and the population prevalence often remain poorly defined. Pathogenic variants in the X-linked gene CASK cause a spectrum of neurologic symptoms known collectively as CASK -related disorder. CASK encodes calcium/calmodulin-dependent serine prote...

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Literature Corpus work: b0b72ae0-dbd5-5909-8cc3-2d1b6f41f442
DOI: 10.64898/2026.08.11.26360119

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