Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

PDF) Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome