Article
Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders.
Molecular psychiatry - 1 Nov 2013
Hiroi N, Takahashi T, Hishimoto A, Izumi T, Boku S, Hiramoto T
Abstract excerpt
Recently discovered genome-wide rare copy number variants (CNVs) have unprecedented levels of statistical association with many developmental neuropsychiatric disorders, including schizophrenia, autism spectrum disorders, intellectual disability and attention deficit hyperactivity disorder. However, as CNVs often include multiple genes, causal genes responsible for CNV-associated diagnoses and traits are still...
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