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

First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library

PDF) Rubinstein-Taybi syndrome: Dental manifestations and management

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

PDF) Rubinstein-Taybi syndrome medical guidelines

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Microdeletions and mutations of CREBBP (CBP) gene can cause

Rubinstein-Taybi syndrome - wikidoc

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

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics