Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
Year: 2015
Type: article
Study design: Observational Study
Source: Human Genetics
Authors: Masako Yaoita, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto, Shion Hayashi, Atsushi Watanabe, Masato Yokozawa, Hiroshi Suzumura, Akihiko Nakahara, Yusuke Nakano, Tatsunori Hokosaki, Ayumi Ohmori, Hirofumi Sawada, Ohsuke Migita, Aya Mima, Pablo Lapunzina, Fernando Santos-Simarro, Sixto García-Miñaúr, Tsutomu Ogata, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Ohashi, Shin-ichi Inoue, Yoichi Matsubara, Shigeo Kure, Yoko Aoki
Institutions: Tohoku University, Aichi Human Service Center, Osaka Women's and Children's Hospital, The Jikei University Hospital, Nippon Medical School Hospital, Hokkaido Medical Center for Child Health and Rehabilitation, Dokkyo Medical University, University of Miyazaki, Nagano Children's Hospital, Yokohama City University Hospital, Mie University, St. Marianna University School of Medicine, Yodogawa Christian Hospital, Hospital Universitario La Paz, Hamamatsu University School of Medicine, Tohoku Medical Megabank Organization, Kanagawa Children's Medical Center, Saitama Children's Medical Center, National Research Institute for Child Health and Development
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2200911078