Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Por um escritor misterioso
Last updated 22 março 2025
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Rubinstein-Taybi syndrome is an intellectual disability which causes short stature, distinctive facial features, and varying cognitive deficits.

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

Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

IJMS, Free Full-Text

What is RTS? Rubinstein-Taybi Syndrome

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

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Genes, Free Full-Text

Rubinstein-Taybi Syndrome: Behavior
The Rubinstein-Taybi Syndrome Children's Foundation

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
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