Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical

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.

DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC

Rubinstein–Taybi syndrome - Wikipedia

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First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

Rubinstein–Taybi syndrome European Journal of Human Genetics

Psychiatric Profile in Rubinstein-Taybi Syndrome

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

BJORL - Brazilian Journal of Otorhinolaryngology

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