2008•Journal of Human GeneticsRequires access

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Yoko Narumi, Yoko Aoki, Tetsuya Niihori, Masahiro Sakurai, Hélène Cavé, Alain Verloès, Kimio Nishio, Hirofumi Ohashi, Kenji Kurosawa, Nobuhiko Okamoto, Hiroshi Kawame, Seiji Mizuno, Tatsuro Kondoh, Marie-Claude Addor, Anne Coeslier-Dieux, Catherine Vincent‐Delorme, Koichi Tabayashi, Masashi Aoki, Tomoko Kobayashi, Afag Guliyeva, Shigeo Kure, Yoichi Matsubara

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Key concepts: Costello syndrome, PTPN11, Noonan syndrome, HRAS, KRAS, Neuroblastoma RAS viral oncogene homolog, Medicine, Intellectual disability