Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

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Rubinstein-Taybi Syndrome

PDF) Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP [3]

IJMS, Free Full-Text

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

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

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics