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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Príomhchruthaitheoirí:	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
Formáid:	Artigo
Teanga:	Inglês
Foilsithe / Cruthaithe:	Elsevier 2020-03-01
Sraith:	Neurobiology of Disease
Ábhair:	Corpus callosum agenesis (CCA) Cell adhesion Cell migration Cell spreading Intellectual disability Kinase
Rochtain ar líne:	http://www.sciencedirect.com/science/article/pii/S0969996119303845
Clibeanna:	Cuir clib leis Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!

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

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