Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications

In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.

Rubinstein–Taybi syndrome: clinical and molecular overview

Exon deletions of the EP300 and CREBBP genes in two children with

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein

Facial dysmorphism, skeletal anomalies, congenital glucoma

Clinical characteristics of present cohort of patients with

Rubinstein-Taybi Syndrome

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Rubinstein‐Taybi syndrome medical guidelines - Wiley - 2003

PDF) Rubinstein-Taybi Syndrome: A Case Report

The natural history of adults with Rubinstein-Taybi syndrome: a

The natural history of adults with Rubinstein-Taybi syndrome: a

PDF) Neurological Manifestations of Rubinstein-Taybi syndrome: A

PDF) Rubinstein-Taybi syndrome medical guidelines