SciELO - Brasil - Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso

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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

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Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect