Publication: Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
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Rauch, R., Hofbeck, M., Zweier, C., Koch, A., Zink, S., Trautmann, U., Hoyer, J., Kaulitz, R., Singer, H., & Rauch, A. (2010). Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of Medical Genetics, 47(5), 321–331. https://doi.org/10.1136/jmg.2009.070391
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Tetralogy of Fallot (TOF), the most frequent cyanotic congenital heart disease, is associated with a wide range of intra- and extracardiac phenotypes. We investigated genotype-phenotype correlation in a large cohort of 230 unselected patients with TOF, in whom we performed karyotyping, comprehensive 22q11.2 deletion testing and sequencing of TBX1, NKX2.5 and JAG1, as well as molecular karyotyping in patients with TOF and otherwise unexplained mental retardation. We found pathogenic genetic aberrations in 42 patients (18%), with 22q11
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- Rauch, R
- Hofbeck, M
- Zweier, C
- Koch, A
- Zink, S
- Trautmann, U
- Hoyer, J
- Kaulitz, R
- Singer, H
- Rauch, A
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Rauch, R., Hofbeck, M., Zweier, C., Koch, A., Zink, S., Trautmann, U., Hoyer, J., Kaulitz, R., Singer, H., & Rauch, A. (2010). Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. Journal of Medical Genetics, 47(5), 321–331. https://doi.org/10.1136/jmg.2009.070391
