Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

Forgotten Diseases Research Foundation

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

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

Clinical and molecular findings of the six patients with Rubinstein

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

About - DECIPHER v11.23

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

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

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

Rubinstein-Taybi syndrome in a Saudi boy with distinct features