Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

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Published in Am J Hum Genet on June 20, 2013

Authors

Yoko Aoki1, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando, Tadataka Hoshika, Christopher Barnett, Hirofumi Ohashi, Hiroshi Kawame, Tomonobu Hasegawa, Takahiro Okutani, Tatsuo Nagashima, Satoshi Hasegawa, Ryo Funayama, Takeshi Nagashima, Keiko Nakayama, Shin-Ichi Inoue, Yusuke Watanabe, Toshihiko Ogura, Yoichi Matsubara

Author Affiliations

1: Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan. aokiy@med.tohoku.ac.jp

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