Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical

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.

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: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology

Rubinstein-Taybi Syndrome

BJORL - Brazilian Journal of Otorhinolaryngology

Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X

Rubinstein-Taybi Syndrome

Clinical characteristics of present cohort of patients with

Rubinstein-Taybi syndrome (broad thumb-hallux syndrome)

Rubinstein-Taybi Syndrome 1

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

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