Condition: Atrial Septal Defect 4


rs137852954 in TBX20 gene and Atrial Septal Defect 4 PMID 19762328 2010 A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects.

PMID 17668378 2007 Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.