PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration

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...

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Bibliographic Details
Main Authors: Kévin Duarte, Solveig Heide, Sandrine Poëa-Guyon, Véronique Rousseau, Christel Depienne, Agnès Rastetter, Caroline Nava, Tania Attié-Bitach, Ferechté Razavi, Jelena Martinovic, Marie Laure Moutard, Jacqueline Cherfils, Cyril Mignot, Delphine Héron, Jean-Vianney Barnier
Format: Article
Language:English
Published: Elsevier 2020-03-01
Series:Neurobiology of Disease
Subjects:
Corpus callosum agenesis (CCA)
Cell adhesion
Cell migration
Cell spreading
Intellectual disability
Kinase
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996119303845

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http://www.sciencedirect.com/science/article/pii/S0969996119303845

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