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Article

Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.

Journal of medical genetics - 1 May 2010

Rauch Ralf, Hofbeck Michael, Zweier Christiane, Koch Andreas, Zink Stefan, Trautmann Udo, Hoyer Juliane, Kaulitz Renate, Singer Helmut, Rauch Anita

Abstract excerpt

BACKGROUND: Tetralogy of Fallot (ToF), the most frequent cyanotic congenital heart disease, is associated with a wide range of intra- and extracardiac phenotypes. In order to get further insight into genotype-phenotype correlation, a large cohort of 230 unselected patients with ToF was comprehens...

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Source

Identifiers

PMID: 19948535
DOI: 10.1136/jmg.2009.070391

Genes

TBX1
JAG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19948535-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.PMID 19948535Read ↗

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