1. Allanson, J. E. (1990). Rubinstein-Taybi syndrome: The changing face. American Journal of Medical Genetics. Supplement, 6, 38–41.
2. Bartholdi, D., Roelfsema, J. H., Papadia, F., et al. (2007). Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300. Journal of Medical Genetics, 44, 327–333.
3. Bartsch, O., Kress, W., Kempf, O., et al. (2010). Inheritance and variable expression in Rubinstein-Taybi syndrome. American Journal of Medical Genetics. Part A, 152A, 2254–2261.
4. Bartsch, O., Locher, K., Meinecke, P., et al. (2002). Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. Journal of Medical Genetics, 39, 496–501.
5. Bartsch, O., Wagner, A., Hinkel, G. K., et al. (1999). FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy. European Journal of Human Genetics, 7, 748–756.