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Article

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

European journal of human genetics : EJHG - 1 Jun 2014

Tucker Tracy, Zahir Farah R, Griffith Malachi, Delaney Allen, Chai David, Tsang Erica, Lemyre Emmanuelle, Dobrzeniecka Sylvia, Marra Marco, Eydoux Patrice, Langlois Sylvie, Hamdan Fadi F, Michaud Jacques L, Friedman Jan M

Abstract excerpt

Intellectual disability affects about 3% of individuals globally, with∼50% idiopathic. We designed an exonic-resolution array targeting all known submicroscopic chromosomal intellectual disability syndrome loci, causative genes for intellectual disability, and potential candidate genes, all genes encoding glutamate receptors and epigenetic regulators. Using this platform, we performed chromosomal microarray...

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Identifiers

PMID: 24253858
DOI: 10.1038/ejhg.2013.248
PMCID: PMC4023222

Genes

CHD7
DCX
FREM2
GRIK2
NRXN1
STXBP1

Provenance

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