Congenital glaucoma as a presenting feature of Rubinstein-Taybi

Genes, Free Full-Text

Facial features of Rubinstein-Taybi syndrome

IJMS, Free Full-Text

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

Rubinstein-Taybi Syndrome

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

Microdeletions and mutations of CREBBP (CBP) gene can cause

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

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

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300