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.
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics
Rubinstein-Taybi Syndrome Info Bank • RTS Support Group
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
rubinstein-taybi syndrome adults - Google Search
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
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Rubinstein‐Taybi syndrome and spontaneous keloids - Goodfellow - 1980 - Clinical and Experimental Dermatology - Wiley Online Library
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