- Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. Benson, D.W., Silberbach, G.M., Kavanaugh-McHugh, A., Cottrill, C., Zhang, Y., Riggs, S., Smalls, O., Johnson, M.C., Watson, M.S., Seidman, J.G., Seidman, C.E., Plowden, J., Kugler, J.D. J. Clin. Invest. (1999)