- Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Roelfsema, J.H., White, S.J., Ariyürek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C.A., den Dunnen, J.T., van Ommen, G.J., Breuning, M.H., Hennekam, R.C., Peters, D.J. Am. J. Hum. Genet. (2005)