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Article

Congenital heart disease caused by mutations in the transcription factor NKX2-5.

Science (New York, N.Y.) - 3 Jul 1998

Schott J J, Benson D W, Basson C T, Pease W, Silberbach G M, Moak J P, Maron B J, Seidman C E, Seidman J G

Abstract excerpt

Mutations in the gene encoding the homeobox transcription factor NKX2-5 were found to cause nonsyndromic, human congenital heart disease. A dominant disease locus associated with cardiac malformations and atrioventricular conduction abnormalities was mapped to chromosome 5q35, where NKX2-5, a Drosophila tinman homolog, is located. Three different NKX2-5 mutations were identified. Two are predicted to impair...

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Identifiers

PMID: 9651244
DOI: 10.1126/science.281.5373.108

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

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