Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
Por um escritor misterioso
Last updated 25 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.
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
JCDR - Rubinstein-Taybi syndrome, Clinodactyly, Talon cusps
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of
Genes, Free Full-Text
PDF] Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor
Clinical characteristics of present cohort of patients with
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics
Rubinstein-Taybi Syndrome
Typcial facial features and broad thumbs of the patient. A) Note his
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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