16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Abstract

Our study shows that 16p13.11 microduplications are likely pathogenic when detected in the context of DD/ID/ASD and supports an essential role of <i>NDE1</i> and miR-484 in the neurocognitive phenotype. Moreover, it suggests the need for cardiac evaluation and follow-up and a large study to evaluate the aortic disease risk.