Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

Rubinstein-Taybi Syndrome: A Rare Case Report

Microdeletions and mutations of CREBBP (CBP) gene can cause

Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome

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

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

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

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