Abstract
Some rare copy number variants (CNVs) that are either a microdeletion or a duplication of a specific genomic region containing several genes are associated with neurodevelopmental disorders. Typically, a CNV can cause multiple psychiatric phenotypes via complex pleotropic effects. This suggests that the pathological mechanisms resulting from the loss or duplication of several genes may be partially shared across psychiatric diseases. Thus, CNVs constitute highly valuable entry points to investigate the mechanisms of pathogenesis associated with neurodevelopmental disorders.
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