Article

The neurodevelopmental spectrum of<i>CASK</i>-related disorder

2024-09-30

Abstract excerpt

<h4>Background</h4> 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...

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Literature Corpus work: 7eae54e1-ff6b-55bb-af7b-7522c75477d2
DOI: 10.1101/2024.09.30.24314620

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