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DOI: 10.1038/ng2073
OpenAccess: Closed
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Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
Bhaswati Pandit,Anna Sárközy,Len A. Pennacchio,Claudio Carta,Kimihiko Oishi,Simone Martinelli,Edgar A. Pogna,Wendy Schackwitz,Anna Ustaszewska,Andrew P. Landstrom,J. Martijn Bos,Steve R. Ommen,Giulia Esposito,Francesca Lepri,Christian Faul,Peter Mündel,Juan Pedro López Siguero,Romano Tenconi,Angelo Selicorni,Cesare Rossi,Laura Mazzanti,Isabella Torrente,Bruno Marino,María Cristina Digilio,Giuseppe Zampino,Michael J. Ackerman,Bruno Dallapiccola,Marco Tartaglia,Bruce D. Gelb
Noonan syndrome
PTPN11
Costello syndrome
2007
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“Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy” is a paper by Bhaswati Pandit Anna Sárközy Len A. Pennacchio Claudio Carta Kimihiko Oishi Simone Martinelli Edgar A. Pogna Wendy Schackwitz Anna Ustaszewska Andrew P. Landstrom J. Martijn Bos Steve R. Ommen Giulia Esposito Francesca Lepri Christian Faul Peter Mündel Juan Pedro López Siguero Romano Tenconi Angelo Selicorni Cesare Rossi Laura Mazzanti Isabella Torrente Bruno Marino María Cristina Digilio Giuseppe Zampino Michael J. Ackerman Bruno Dallapiccola Marco Tartaglia Bruce D. Gelb published in 2007. It has an Open Access status of “closed”. You can read and download a PDF Full Text of this paper here.