Article

Mutations in <i>Kinesin Family Member 6</i> Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development

2018-06-19

Abstract excerpt

<h4>ABSTRACT</h4> Cerebrospinal fluid flow is crucial for neurodevelopment and homeostasis of the ventricular system of the brain, with localized flow being established by the polarized beating of the ependymal cell (EC) cilia. Here, we report a homozygous one base-pair deletion, c.1193delT (p.Leu398Glnfs*2), in the Kinesin Family Member 6 ( KIF6 ) gene in a child displaying neurocranial defects and intellectua...

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Literature Corpus work: a89bd9e3-8666-5387-899e-634a76653a58
DOI: 10.1101/350140

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