Molecular studies in 10 cases of Rubinstein-Taybi syndrome

First case report of inherited Rubinstein-Taybi syndrome

Facial features of Rubinstein-Taybi syndrome

Internet Scientific Publications

Intellectual Characteristics

Rubinstein-Taybi Syndrome (RTS) Event at the Newport Aquarium

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

Mosaic CREBBP mutation causes overlapping clinical features of

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

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