Growth charts for individuals with Rubinstein–Taybi syndrome

Forgotten Diseases Research Foundation

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

Rubinstein–Taybi syndrome European Journal of Human Genetics

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

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

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

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 diverse populations - Tekendo