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

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

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

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

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

Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

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

Mosaic CREBBP mutation causes overlapping clinical features of

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Rubinstein‐Taybi syndrome in Chinese population with four novel