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

Forgotten Diseases Research Foundation

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

Clinical and molecular findings of the six patients with Rubinstein

Mosaic CREBBP mutation causes overlapping clinical features of

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP