A novel EP300 mutation associated with Rubinstein‐Taybi syndrome type 2 presenting as combined immunodeficiency
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R. Badolato | S. Maitz | A. Biondi | L. Bettini | D. Moratto | M. Iascone | C. Rizzari | A. Grioni | Fabio Pavan | M. Spinelli | F. Saettini