Article
Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.
Human molecular genetics - 15 Jun 2014
Grunert Marcel, Dorn Cornelia, Schueler Markus, Dunkel Ilona, Schlesinger Jenny, Mebus Siegrun, Alexi-Meskishvili Vladimir, Perrot Andreas, Wassilew Katharina, Timmermann Bernd, Hetzer Roland, Berger Felix, Sperling Silke R
Abstract excerpt
Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. Its genetic basis is demonstrated by an increased recurrence risk in siblings and familial cases. However, the majority of TOF are sporadic, isolated cases of undefined origin and it had been postulated that rare and private autosomal variations in concert define its genetic basis. To elucidate this hypothesis, we performed a...
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