Background 17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based ...

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Second, we wanted to test whether the observed phenotype is independent of the laboratory of analysis (i.e., whether it is sufficiently robust to be replicated at multiple sites) (Fig. 1 A). This goal ...