Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Yoko Aoki(Tohoku University), Tetsuya Niihori(Tohoku University), Toshihiro Banjo(Tohoku University), Nobuhiko Okamoto(Osaka International Cancer Institute), Seiji Mizuno(Aichi Human Service Center), Kenji Kurosawa(Kanagawa Children's Medical Center), Tsutomu Ogata(Hamamatsu University School of Medicine), Fumio Takada(Kitasato University), Michihiro Yano(Akita University), Toru Ando(Municipal Tsuruga Hospital), Tadataka Hoshika(Tottori Prefectural Central Hospital), Christopher Barnett(South Australia Pathology), Hirofumi Ohashi(Saitama Children's Medical Center), Hiroshi Kawame(Ochanomizu University), Tomonobu Hasegawa(Keio University), Takahiro Okutani(Wakayama Medical University), Tatsuo Nagashima(Jikei University School of Medicine), Satoshi Hasegawa(Niigata University), Ryo Funayama(Tohoku University), Takeshi Nagashima(Tohoku University), Keiko Nakayama(Tohoku University), Shin-ichi Inoue(Tohoku University), Yusuke Watanabe(Tohoku University), Toshihiko Ogura(Tohoku University), Yoichi Matsubara(Tohoku University)
The American Journal of Human Genetics
June 20, 2013
Cited by 331Open Access
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