PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

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PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report

PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

PDF) Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation

PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

PDF) Rubinstein-Taybi syndrome medical guidelines

PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

Rubinstein–Taybi syndrome (CREBBP, EP300)

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