Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.
Bmc Medical Genetics
Marzuillo, Pierluigi P; Grandone, Anna A; Coppola, Ruggero R; Cozzolino, Domenico D; Festa, Adalgisa A; Messa, Federica F; Luongo, Caterina C; Del Giudice, Emanuele Miraglia EM; Perrone, Laura L