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Article

Down syndrome congenital heart disease: a narrowed region and a candidate gene.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Barlow G M, Chen X N, Shi Z Y, Lyons G E, Kurnit D M, Celle L, Spinner N B, Zackai E, Pettenati M J, Van Riper A J, Vekemans M J, Mjaatvedt C H, Korenberg J R

Abstract excerpt

PURPOSE: Down syndrome (DS) is a major cause of congenital heart disease (CHD) and the most frequent known cause of atrioventricular septal defects (AVSDs). Molecular studies of rare individuals with CHD and partial duplications of chromosome 21 established a candidate region that included D21S55 through the telomere. We now report human molecular and cardiac data that narrow the DS-CHD region, excluding two...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11280955
DOI: 10.1097/00125817-200103000-00002

Genes

DSCAM
ERG
ETS2
PFKL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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