Rubinstein-Taybi Syndrome Support Group

Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the

Broad thumbs and broad hallux: the hallmarks for the Rubinstein

Internet Scientific Publications

4 Newborn with Rubinstein-Taybi syndrome showing microcephaly

Rubinstein-Taybi Syndrome by Alexandra Wilegus

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

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

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