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Phenotypic variations on the theme of CNVs

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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Figure 1: Possible relationships between various neurodevelopmental and psychiatric syndromes and a CNV (or any risk factor).


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O'Donovan, M., Kirov, G. & Owen, M. Phenotypic variations on the theme of CNVs. Nat Genet 40, 1392–1393 (2008).

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