Article
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
Molecular psychiatry - 1 Jul 2014
Toma C, Torrico B, Hervás A, Valdés-Mas R, Tristán-Noguero A, Padillo V, Maristany M, Salgado M, Arenas C, Puente X S, Bayés M, Cormand B
Abstract excerpt
Autism is a severe neurodevelopmental disorder, the aetiology of which remains mainly unknown. Family and twin studies provide strong evidence that genetic factors have a major role in the aetiology of this disease. Recently, whole exome sequencing (WES) efforts have focused mainly on rare de nov...
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