Article

Genome-wide association studies of Down syndrome associated congenital heart defects

2024-09-06

Abstract excerpt

Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n=886: atrioventricular septal defects (AVSD), n=438; atrial septal defects (ASD), n=122; ventricular septal defects (VSD), n=170; othe...

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Literature Corpus work: 74066ea7-e6e7-59c2-ac9e-b60c9770e47a
DOI: 10.1101/2024.09.06.24313183

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