Diverse Clinical Phenotypes of CASK-Related Disorders and Multiple Functional Domains of CASK Protein.
Genes（2023）
Key words
microcephaly with pontine and cerebellar hypoplasia (MICPCH),calcium/calmodulin-dependent serine protein kinase (CASK),CASK-related disorders,developmental epileptic encephalopathy,X chromosome inactivation,X-linked intellectual developmental disorders with nystagmus,neurocircuit interference
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