A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

BACKGROUND: The 15q24 microdeletion syndrome has been recently described as a recurrent, submicroscopic genomic imbalance found in individuals with intellectual disability, typical facial appearance, hypotonia, and digital and genital abnormalities. Gene dosage abnormalities, including copy number v...

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Hlavní autoři: McInnes, L Alison, Nakamine, Alisa, Pilorge, Marion, Brandt, Tracy, Jiménez González, Patricia, Fallas, Marietha, Manghi, Elina R, Edelmann, Lisa, Glessner, Joseph, Hakonarson, Hakon, Betancur, Catalina, Buxbaum, Joseph D
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
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Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2907565/
https://ncbi.nlm.nih.gov/pubmed/20678247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2040-2392-1-5
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