PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
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PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
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)
PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
PDF) Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
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