2024
DOI: 10.1101/2024.09.30.24314620
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The neurodevelopmental spectrum ofCASK-related disorder

Jessica Martin,
Alkistis Mavrogalou-Foti,
Josefine Eck
et al.

Abstract: Background: Pathogenic CASK variants are associated with neurodevelopmental disorders of variable severity including X-linked intellectual disability (XLID) and microcephaly with pontocerebellar hypoplasia (MICPCH). Although the number of diagnosed cases is rising, current understanding of the CASK-related neurodevelopmental spectrum is limited. Here, we systematically review the published characteristics of individuals with CASK-related disorder, and compare these to a more recently-diagnosed group. We provid… Show more

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