Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

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Karger

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

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John Wiley & Sons Inc

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Benign and malignant tumors in Rubinstein–Taybi syndrome

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Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein–Taybi syndrome

By Kalkhoven Eric  

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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome

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