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

Rubinstein–Taybi syndrome - Wikipedia

Forgotten Diseases Research Foundation

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

Rubinstein-Taybi Syndrome

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

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

High frequency of copy number imbalances in Rubinstein–Taybi

Rubinstein–Taybi syndrome: clinical and molecular overview