Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD.
Tartaglia M, et al. Among authors: neri c.
Nat Genet. 2007 Jan;39(1):75-9. doi: 10.1038/ng1939. Epub 2006 Dec 13.
Nat Genet. 2007.
PMID: 17143282