Article
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
American journal of medical genetics. Part A - 1 Oct 2011
Mikhail Fady M, Lose Edward J, Robin Nathaniel H, Descartes Maria D, Rutledge Katherine D, Rutledge S Lane, Korf Bruce R, Carroll Andrew J
Abstract excerpt
Recent studies suggest that copy number variations (CNVs) encompassing several genes involved in neurodevelopmental pathways are associated with a variety of neuropsychiatric phenotypes, including developmental delay (DD), mental retardation (MR), and autism spectrum disorders (ASDs). Here we present eight patients in a cohort of approximately 1,200 patients referred for clinical array CGH testing for various...
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