Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
Por um escritor misterioso
Last updated 12 março 2025


First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Prediction of an RTI deletion using selected Rubinstein-Taybi syndrome

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

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

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes

De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics

IJMS, Free Full-Text

Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics

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