From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Gloria Negri, Pamela Magini, Donatella Milani, Patrizia Colapietro, Daniela Rusconi, Emanuela Scarano, Maria Teresa Bonati, Manuela Priolo, Milena Crippa, Laura Mazzanti, Anita Wischmeijer, Federica Tamburrino, Tommaso Pippucci, Palma Finelli, Lidia Larizza, Cristina Gervasini

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Medicine & Life Sciences