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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis | European Journal of Human Genetics
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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
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
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Rubinstein–Taybi syndrome: clinical and molecular overview | Expert Reviews in Molecular Medicine | Cambridge Core
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First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant | BMC Medical Genetics | Full Text
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Rubinstein–Taybi syndrome - Wikipedia
Pediatric on Squares on X: "Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome https://t.co/OIJLNHKlSe" / X
Rubinstein-Taybi syndrome: MedlinePlus Genetics
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