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...

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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BMJ Group 2009
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Original Article
Accès en ligne: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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