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Mosaic structural variation in children with developmental disorders

29 Jan 2015

Abstract excerpt

Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present in only a subset of cells, have been detected in 0.2-1.0% of children ascertained for clinical genetic testing. However, the frequency among healthy children in the community is not well characterized,...

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PMID: 25634561
DOI: 10.1093/hmg/ddv033

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