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

Forgotten Diseases Research Foundation

PDF) Rubinstein-Taybi syndrome: Dental manifestations and management

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

PDF) Rubinstein-Taybi syndrome medical guidelines

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Genes involved in histone acetylation known to cause rare diseases

IJMS, Free Full-Text

Mosaic CREBBP mutation causes overlapping clinical features of

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