Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
Por um escritor misterioso
Last updated 07 novembro 2024
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.
A novel CREBBP mutation and its phenotype in a case of Rubinstein
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis
Rubinstein-Taybi syndrome: clinical features, genetic basis
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An
Rubinstein–Taybi syndrome in diverse populations - Tekendo
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