Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
Por um escritor misterioso
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.
Clinical characteristics of present cohort of patients with
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein–Taybi syndrome European Journal of Human Genetics
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 - MEDizzy
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi Syndrome 1
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
de
por adulto (o preço varia de acordo com o tamanho do grupo)