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Article

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

European journal of human genetics : EJHG - 1 Jun 2009

McBride Kim L, Zender Gloria A, Fitzgerald-Butt Sara M, Koehler Daniel, Menesses-Diaz Andres, Fernbach Susan, Lee Kwanghyuk, Towbin Jeffrey A, Leal Suzanne, Belmont John W

Abstract excerpt

The left ventricular outflow tract (LVOT) malformations aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) are significant causes of infant mortality. These three malformations are thought to share developmental pathogenetic mechanisms. A strong genetic component has been demonstrated earlier, but the underlying genetic etiologies are unknown. Our objective was...

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Identifiers

PMID: 19142209
DOI: 10.1038/ejhg.2008.255
PMCID: PMC2916734

Genes

NPL

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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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