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Epigenomic signature of major congenital heart defects in newborns with Down syndrome

6 Oct 2023

Abstract excerpt

BACKGROUND: Congenital heart defects (CHDs) affect approximately half of individuals with Down syndrome (DS), but the molecular reasons for incomplete penetrance are unknown. Previous studies have largely focused on identifying genetic risk factors associated with CHDs in individuals with DS, but comprehensive studies of the contribution of epigenetic marks are lacking. We aimed to identify and characterize DNA...

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PMID: 37803336
DOI: 10.1186/s40246-023-00540-1

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