Novel and functional sequence variants within the TBX2 gene promoter in ventricular septal defects.


Congenital heart disease (CHD) is the most common birth defects in humans. To date, genetic causes for CHD remain largely unknown. T-box transcription factor 2 (TBX2) gene is expressed in the myocardium of atrioventricular canal, outflow tract and inflow tract and plays a critical role in heart chamber formation. Genomic deletion and duplication of TBX2… (More)
DOI: 10.1016/j.biochi.2013.05.007

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