Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Cristina Digilio, Paola Daniele, Christina Lissewski, Gianfranco Bocchinfuso, Lorenzo Stella, Sylvie Odent, Nicole Philip, Laurence Faivre, Marketa Vlckova, Eva Seemanova, Maria Gnazzo, Martin Zenker, Giuseppe Zampino, Alain Verloes, Bruno Dallapiccola, Amy E Roberts, Hélène Cavé, Bruce D Gelb, Benjamin G Neel, Marco Tartaglia, Alessandro Bruselles, Jiani C Yin, Cecilia Gunnarsson, Carl Virtanen, Séverine Drunat, Francesca Lepri, Alessandro De Luca, Cesare Rossi, Andrea Ciolfi, Trevor J Pugh, Viviana Cordeddu, James R Priest, Len A Pennacchio, Zhibin Lu, Arnavaz Danesh, Rene Quevedo, Alaa Hamid, Simone Martinelli, Francesca Pantaleoni
Human mutation 2016;36(11):1080-7