A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

BACKGROUND: Ostium secundum atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD), and mutations in cardiac transcription factors, including TBX20, were identified as an underlying cause for ASDII. However, very little is known about disease penetrance in...

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Detalles Bibliográficos
Autores principales: Posch, Maximilian G, Gramlich, Michael, Sunde, Margaret, Schmitt, Katharina R, Lee, Stella H Y, Richter, Silke, Kersten, Andrea, Perrot, Andreas, Panek, Anna N, Al Khatib, Iman H, Nemer, Georges, Mégarbané, André, Dietz, Rainer, Stiller, Brigitte, Berger, Felix, Harvey, Richard P, Özcelik, Cemil
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2981023/
https://www.ncbi.nlm.nih.gov/pubmed/19762328
http://dx.doi.org/10.1136/jmg.2009.069997

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