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

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

IJMS, Free Full-Text

Rubinstein-Taybi syndrome: Dental manifestations and management

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

Genes involved in histone acetylation known to cause rare diseases

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

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

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

Rubinstein–Taybi syndrome: clinical and molecular overview