A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot | Zendy

Judith A. Goodship | Zendy; Darroch Hall | Zendy; Ana Töpf | Zendy; Chrysovalanto Mamasoula | Zendy; Helen Griffin | Zendy; Thahira Rahman | Zendy; Elise Glen | Zendy; Huay Lin Tan | Zendy; Julián Palomino Doza | Zendy; Caroline L. Relton | Zendy; Jamie Bentham | Zendy; Shoumo Bhattacharya | Zendy; Catherine Cosgrove | Zendy; J. David Brook | Zendy; Javier T Granados-Riveron | Zendy; Frances Bu’Lock | Zendy; John O’Sullivan | Zendy; Graham Stuart | Zendy; Jonathan Parsons | Zendy; Heather J. Cordell | Zendy; Bernard Keavney | Zendy

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A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot

Author(s) -

Judith A. Goodship,

Darroch Hall,

Ana Töpf,

Chrysovalanto Mamasoula,

Helen Griffin,

Thahira Rahman,

Elise Glen,

Huay Lin Tan,

Julián Palomino Doza,

Caroline L. Relton,

Jamie Bentham,

Shoumo Bhattacharya,

Catherine Cosgrove,

J. David Brook,

Javier T Granados-Riveron,

Frances Bu’Lock,

John O’Sullivan,

Graham Stuart,

Jonathan Parsons,

Heather J. Cordell,

Bernard Keavney

Publication year - 2012

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.111.962035

Subject(s) - ptpn11 , haplotype , genetics , noonan syndrome , tetralogy of fallot , single nucleotide polymorphism , linkage disequilibrium , odds ratio , cohort , genotype , medicine , transmission disequilibrium test , biology , genotyping , candidate gene , gene , heart disease , mutation , kras

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.

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