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

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

PDF) Rubinstein-Taybi syndrome medical guidelines

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

Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared

Main clinical findings of the 16 Brazilian patients with

Mosaic CREBBP mutation causes overlapping clinical features of

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

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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