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

PDF) Electroclinical phenotype in Rubinstein–Taybi syndrome

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine

PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

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

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

Individual functions of the histone acetyl transferases CBP and p300 in regulating the inflammatory response of synovial fibroblasts - ScienceDirect

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine