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Article

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

Journal of medical genetics - 1 Feb 2010

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

Abstract excerpt

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 disorders. METHODS: To search for submicroscopic chromosomal rearrangements in the child, array comparative genomic...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Membrane Transport Proteins

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Source

Open in PubMed Open full text

Identifiers

PMID: 19546099
DOI: 10.1136/jmg.2008.065821
PMCID: PMC2921284

Genes

RIMS3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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