CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library

PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein-Taybi Syndrome and Epigenetic Alterations

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

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

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH

PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

SIOP 2016 Scientific Programme+Index - 2016 - Pediatric Blood & Cancer - Wiley Online Library

PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC