Expanding the phenotype associated to KMT2A variants: overlapping

PDF) Rubinstein-Taybi syndrome: Dental manifestations and management

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

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

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: clinical and molecular overview, Expert Reviews in Molecular Medicine

Rubinstein–Taybi syndrome: clinical and molecular overview

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

A novel CREBBP mutation and its phenotype in a case of Rubinstein