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Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome

22 Oct 2020

Abstract excerpt

Abstract Atrioventricular septal defects (AVSD) are a severe congenital heart defect present in individuals with Down syndrome (DS) at a > 2000-fold increased prevalence compared to the general population. This study aimed to identify risk-associated genes and pathways and to examine a potential polygenic contribution to AVSD in DS. We analyzed a total cohort of 702 individuals with DS with or without AVSD, with...

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PMID: 33093519
DOI: 10.1038/s41598-020-74650-4

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