17603483 |
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Pandit, B,
Sarkozy, A,
Pennacchio, LA,
Carta, C,
Oishi, K,
Martinelli, S,
Pogna, EA,
Schackwitz, W,
Ustaszewska, A,
Landstrom, A,
Bos, JM,
Ommen, SR,
Esposito, G,
Lepri, F,
Faul, C,
Mundel, P,
López Siguero, JP,
Tenconi, R,
Selicorni, A,
Rossi, C,
Mazzanti, L,
Torrente, I,
Marino, B,
Digilio, MC,
Zampino, G,
Ackerman, MJ,
Dallapiccola, B,
Tartaglia, M,
Gelb, BD
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Nat Genet |
2007 |