Article
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
PloS one - 4 Mar 2011
Konyukh Marina, Delorme Richard, Chaste Pauline, Leblond Claire, Lemière Nathalie, Nygren Gudrun, Anckarsäter Henrik, Rastam Maria, Ståhlberg Ola, Amsellem Frederique, Gillberg I Carina, Mouren-Simeoni Marie Christine, Herbrecht Evelyn, Fauchereau Fabien, Toro Roberto, Gillberg Christopher, Leboyer Marion, Bourgeron Thomas
Abstract excerpt
BACKGROUND: Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis of rare variations of 8 candidate genes among the 27 genes located in this region suggested SEZ6L2 as a...
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