A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

BACKGROUND: A child with autism and mild microcephaly was found to have a de novo 3.3 Mb microdeletion on chromosome 1p34.2p34.3. The hypothesis is tested that this microdeletion contains one or more genes that underlie the autism phenotype in this child and in other children with autism spectrum di...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kumar, Ravinesh A, Sudi, Jyotsna, Babatz, Timothy D, Brune, Camille W, Oswald, Donald, Yen, Mayon, Nowak, Norma J, Cook, Edwin H, Christian, Susan L, Dobyns, William B
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Group 2009
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2921284/
https://ncbi.nlm.nih.gov/pubmed/19546099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.065821
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