Ultra-Rare Syndromes: The Example of 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

PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author

Rubinstein-Taybi Syndrome

PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

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

Mosaic CREBBP mutation causes overlapping clinical features of

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

High frequency of copy number imbalances in Rubinstein–Taybi

Molecular studies in 10 cases of Rubinstein-Taybi syndrome

New insights into genetic variant spectrum and genotype–phenotype