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Article

Rare copy number variants in patients with congenital conotruncal heart defects.

Birth defects research - 1 Mar 2017

Xie Hongbo M, Werner Petra, Stambolian Dwight, Bailey-Wilson Joan E, Hakonarson Hakon, White Peter S, Taylor Deanne M, Goldmuntz Elizabeth

Abstract excerpt

BACKGROUND: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects. We sought to identify disease-related CNVs, candidate genes, and functional pathways in a large number of cases with conotruncal and related defects that carried no known genetic syndrome. METHODS: Cases and...

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Identifiers

PMID: 28398664
DOI: 10.1002/bdra.23609
PMCID: PMC5407323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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