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Article

Exome analysis of a family with pleiotropic congenital heart disease.

Circulation. Cardiovascular genetics - 1 Apr 2012

Arrington Cammon B, Bleyl Steven B, Matsunami Norisada, Bonnell Gabriel D, Otterud Brith E M, Nielsen Douglas C, Stevens Jeffrey, Levy Shawn, Leppert Mark F, Bowles Neil E

Abstract excerpt

BACKGROUND: A number of single gene defects have been identified in patients with isolated or nonsyndromic congenital heart defects (CHDs). However, due to significant genetic heterogeneity, candidate gene approaches have had limited success in finding high-risk alleles in most cases. The purpose of this study was to use exome sequencing to identify high-risk gene variants in a family with highly penetrant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22337856
DOI: 10.1161/CIRCGENETICS.111.961797
PMCID: PMC3329568

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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