Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2907565/
https://www.ncbi.nlm.nih.gov/pubmed/20678247
http://dx.doi.org/10.1186/2040-2392-1-5