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Article

NKX2.5 mutations in patients with congenital heart disease.

Journal of the American College of Cardiology - 5 Nov 2003

McElhinney Doff B, Geiger Elizabeth, Blinder Joshua, Benson D Woodrow, Goldmuntz Elizabeth

Abstract excerpt

OBJECTIVES: The purpose of this study was to estimate the frequency of NKX2.5 mutations in specific cardiovascular anomalies and investigate genotype-phenotype correlations in individuals with NKX2.5 mutations. BACKGROUND: Recent reports have implicated mutations in the transcription factor NKX2.5 as a cause of various congenital heart defects (CHD). METHODS: We tested genomic deoxyribonucleic acid from 608...

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Share to Heart Defects, Congenital
Share to Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeobox Protein Nkx-2.5

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Source

Identifiers

PMID: 14607454
DOI: 10.1016/j.jacc.2003.05.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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