Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
Por um escritor misterioso
Last updated 10 setembro 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.
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Typcial facial features and broad thumbs of the patient. A) Note his
SciELO - Brasil - Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (broad thumb-hallux syndrome)
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein–Taybi syndrome European Journal of Human Genetics
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Rubinstein–Taybi syndrome - Wikipedia
Psychiatric Profile in Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics
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