Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect

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

PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome

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

OMIM diseases as a function of associated HPO phenotypes. Data include

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

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

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP