Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Marco Tartaglia, Len A. Pennacchio, Chen Zhao, Kamlesh K. Yadav, Valentina Fodale, Anna Sarkozy, Bhaswati Pandit, Kimihiko Oishi, Simone Martinelli, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, James Bristow, Claudio Carta, Francesca Lepri, Cinzia Neri, Isabella Vasta, Kate Gibson, Cynthia J. Curry, Juan Pedro López SigueroMaria Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Dafna Bar-Sagi, Bruce D. Gelb

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Medicine & Life Sciences