Article

Loss of Neurodevelopmental Gene <i>CASK</i> Disrupts Neural Connectivity in Human Cortical Excitatory Neurons

2022-02-15

Abstract excerpt

<h4>Summary</h4> Loss-of-function (LOF) mutations in CASK cause severe developmental phenotypes, including microcephaly with pontine and cerebellar hypoplasia, X-linked intellectual disability, and autism. Unraveling the pathogenesis of CASK -related disorders has been challenging due to limited human cellular models to study the dynamic roles of this molecule during neuronal and synapse development. Here, we g...

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Literature Corpus work: df104a36-4736-5da0-be93-2c05cafed1c6
DOI: 10.1101/2022.02.14.480404

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