PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration
Abstract
Corpus callosum agenesis (CCA) is a brain malformation associated with a wide clinical spectrum including intellectual disability (ID) and an etiopathological complexity. We identified a novel missense G424R mutation in the X-linked p21-activated kinase 3 (PAK3) gene in a boy presenting with severe ID, microcephaly and CCA and his fetal sibling with CCA and severe hydrocephaly. PAK3 kinase is known to control synaptic plasticity and dendritic...
Paper Details
Title
PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration
Published Date
Mar 1, 2020
Journal
Volume
136
Pages
104709 - 104709
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