Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 04 abril 2025


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

PDF) Exogenous and endogenous HDAC inhibitor effects in Rubinstein-Taybi syndrome models

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases

Rubinstein-Taybi Syndrome: A Rare Case Report

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

PDF] Rubinstein-Taybi Syndrome: A Case Report

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia

PDF] Rubinstein-Taybi Syndrome: A Case Report

PDF] Rubinstein-Taybi Syndrome: A Case Report

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

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