Ontology highlight
ABSTRACT:
SUBMITTER: Konyukh M
PROVIDER: S-EPMC3048866 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Konyukh Marina M Delorme Richard R Chaste Pauline P Leblond Claire C Lemière Nathalie N Nygren Gudrun G Anckarsäter Henrik H Rastam Maria M Ståhlberg Ola O Amsellem Frederique F Gillberg I Carina IC Mouren-Simeoni Marie Christine MC Herbrecht Evelyn E Fauchereau Fabien F Toro Roberto R Gillberg Christopher C Leboyer Marion M Bourgeron Thomas T
PloS one 20110304 3
<h4>Background</h4>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 compelling candidate.<h4>Methodology/principal findings</h4>We further explored the ...[more]