Rubinstein-Taybi Syndrome

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

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

Clinical and molecular findings of the six patients with Rubinstein

Rubinstein-Taybi Syndrome: A Rare Case Report

Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics

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

Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect

High frequency of copy number imbalances in Rubinstein–Taybi

New insights into genetic variant spectrum and genotype–phenotype