From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities

Por Bukvic Nenad, Varvara Dora, Rossi Cesare, Felicia-Faienza Maria, Susca Francesco C., Resta Nicoletta
Publicado em 2015-01-01

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sen...

Por Loconte, Daria C., Grossi, Valentina, Bozzao, Cristina, Forte, Giovanna, Bagnulo, Rosanna, Stella, Alessandro, Lastella, Patrizia, Cutrone, Mario, Benedicenti, Francesco, Susca, Francesco C., Patruno, Margherita, Varvara, Dora, Germani, Aldo, Chessa, Luciana, Laforgia, Nicola, Tenconi, Romano, Simone, Cristiano, Resta, Nicoletta
Publicado no PLoS One (2015)