High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis | European Journal of Human Genetics
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Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH | European Journal of Human Genetics
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Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature | British Journal of Ophthalmology
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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations | Journal of Medical Genetics
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