Article
Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).
BMC medical genetics - 12 May 2005
Muncke Nadja, Niesler Beate, Roeth Ralph, Schön Karin, Rüdiger Heinz-Juergen, Goldmuntz Elizabeth, Goodship Judith, Rappold Gudrun
Abstract excerpt
BACKGROUND: PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transposition of the great arteries (TGA). TGA accounts for 5-7% of all congenital heart diseases affecting 0.2 per 1000 live births, thereby representing the most frequent cyanotic heart defect diagnosed...
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