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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Publication : PloS one

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in PloS one - 04 Mar 2011

Konyukh M, Delorme R, Chaste P, Leblond C, Lemière N, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Amsellem F, Gillberg IC, Mouren-Simeoni MC, Herbrecht E, Fauchereau F, Toro R, Gillberg C, Leboyer M, Bourgeron T

Link to Pubmed [PMID] – 21394203

PLoS ONE 2011;6(3):e17289

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.

http://www.ncbi.nlm.nih.gov/pubmed/21394203