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Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP | Journal of Medical 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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Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis | European Journal of Human Genetics
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant | BMC Medical Genetics | Full Text
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