Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
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Descrição
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.
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
Keloids in Rubinstein–Taybi syndrome: a clinical study - Kar - 2014 - British Journal of Dermatology - Wiley Online Library
Rubinstein-Taybi Syndrome 1
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Forgotten Diseases Research Foundation
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
BJORL - Brazilian Journal of Otorhinolaryngology
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
PDF] Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome
Clinical characteristics of present cohort of patients with
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Clinical features of Rubinstein-Taybi syndrome illustrated in Korean
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