Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Abstract

Next generation genomic technologies have made a significant contribution to the understanding of the genetic architecture of human neurodevelopmental disorders. Copy number variants (CNVs) play an important role in the genetics of intellectual disability (ID). For many CNVs, and copy number gains in particular, the responsible dosage-sensitive gene(s) have… (More)
DOI: 10.1093/hmg/ddv414

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6 Figures and Tables