The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

ABSTRACT: Here we aimed to contribute to the description of the genetic architecture of Congenital heart defect (CHD) in Down syndrome (DS), and report the results of a genome-wide association study using samples from DS individuals with and without CHD. CHD is a common developmental defect of DS occurring in 40% of cases. This case-control GWAS includes 187 DS with CHD as cases, and 151 DS without CHD as controls.

PROVIDER: EGAS00000000129 | EGA |

REPOSITORIES: EGA