Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
Por um escritor misterioso
Last updated 27 outubro 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.
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi Syndrome Info Bank • RTS Support Group
Rubinstein–Taybi syndrome European Journal of Human Genetics
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
What Is Rubinstein-Taybi Syndrome? - StoryMD
Rubinstein–Taybi syndrome European Journal of Human Genetics
Rubinstein-Taybi Syndrome
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Rubinstein-Taybi syndrome (broad thumb-hallux syndrome)
PDF] Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome
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
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