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

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Last updated 18 fevereiro 2025

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

Oliver BARTSCH, Medical Doctor, Professor, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Institute of Human Genetics

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Rubinstein-Taybi syndrome (CREBBP, EP300)

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

Oliver BARTSCH, Medical Doctor, Professor, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Institute of Human Genetics

PDF) Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

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

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

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