Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

Congenital glaucoma as a presenting feature of Rubinstein-Taybi

Rubinstein-Taybi syndrome: Dental manifestations and management

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

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

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

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

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

A novel CREBBP mutation and its phenotype in a case of Rubinstein

New insights into genetic variant spectrum and genotype–phenotype