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Nature Genetics 40, 1392 - 1393 (2008)
doi:10.1038/ng1208-1392
Phenotypic variations on the theme of CNVs
Michael C O'Donovan1, George Kirov1 & Michael J Owen1
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Michael C. O'Donovan, George Kirov and Michael J. Owen are in the Department of Psychological Medicine, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
e-mail: odonovanmc@cf.ac.uk
Abstract
Copy number variation has emerged as an important type of genetic risk factor for developmental disorders, including the neurodevelopmental disorders schizophrenia, autism and mental retardation. The highly pleiotropic effects observed for specific copy number variants (CNVs) challenge current classification of these disorders, but also provide opportunities to understand their origins and the relationships between them.
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