Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene

Rubinstein–Taybi syndrome European Journal of Human Genetics

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

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

Rubinstein-Taybi syndrome with scoliosis – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science hub.

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

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