Ontology highlight
ABSTRACT:
SUBMITTER: Qin J
PROVIDER: S-EPMC2721832 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Qin Jian J Jia Meixiang M Wang Lifang L Lu Tianlan T Ruan Yan Y Liu Jing J Guo Yanqing Y Zhang Jishui J Yang Xiaoling X Yue Weihua W Zhang Dai D
BMC medical genetics 20090630
<h4>Background</h4>Autism, a heterogeneous disease, is described as a genetic psychiatry disorder. Recently, abnormalities at the synapse are supposed to be important for the etiology of autism.SHANK3 (SH3 and multiple ankyrin repeat domains protein) gene encodes a master synaptic scaffolding protein at postsynaptic density (PSD) of excitatory synapse. Rare mutations and copy number variation (CNV) evidence suggested SHANK3 as a strong candidate gene for the pathogenesis of autism.<h4>Methods</h ...[more]