Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
Por um escritor misterioso
Last updated 06 julho 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.
Genes, Free Full-Text
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein–Taybi syndrome European Journal of Human Genetics
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of
Rubinstein–Taybi syndrome - Wikipedia
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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
Rubinstein-Taybi Syndrome
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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