Rubinstein-Taybi Syndrome

Key Facts

Rubinstein- Taybi Syndrome Congenital Hand and Arm Differences

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in

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

Frontiers Case report: A preterm infant with rubinstein-taybi

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene

Keloids in Rubinstein–Taybi syndrome: a clinical study - Kar

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

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics