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Article

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

Circulation. Cardiovascular genetics - 1 Jun 2012

Goodship Judith A, Hall Darroch, Topf Ana, Mamasoula Chrysovalanto, Griffin Helen, Rahman Thahira J, Glen Elise, Tan Huay, Palomino Doza Julian, Relton Caroline L, Bentham Jamie, Bhattacharya Shoumo, Cosgrove Catherine, Brook David, Granados-Riveron Javier, Bu'Lock Frances A, O'Sullivan John, Stuart A Graham, Parsons Jonathan, Cordell Heather J, Keavney Bernard

Abstract excerpt

BACKGROUND: Tetralogy of Fallot (TOF) is the commonest cyanotic form of congenital heart disease. In 80% of cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common genetic variants influencing TOF risk have been robustly identified. METHODS AND RES...

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Source

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Identifiers

PMID: 22503907
DOI: 10.1161/CIRCGENETICS.111.962035
PMCID: PMC4643453

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22503907-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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