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

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Last updated 22 outubro 2024

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

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

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

PDF) Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome

PDF) Case Report: Rubinstein-Taybi Syndrome

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

PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

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

Rubinstein–Taybi syndrome (CREBBP, EP300)

PDF) Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith- Kingsmore Syndrome and Rubinstein Taybi Syndrome Type2

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

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