Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Masako Yaoita"'
Autor:
Tsutomu Ogata, Sixto García-Miñaur, Nobuhiko Okamoto, Shion Hayashi, Atsushi Watanabe, Ohsuke Migita, Pablo Lapunzina, Masato Yokozawa, Hiroshi Suzumura, Hirofumi Ohashi, Fernando Santos-Simarro, Seiji Mizuno, Tetsuya Niihori, Yoko Aoki, Akihiko Nakahara, Yusuke Nakano, Shin Ichi Inoue, Ayumi Ohmori, Yoichi Matsubara, Tatsunori Hokosaki, Shigeo Kure, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Sawada, Aya Mima, Masako Yaoita
Publikováno v:
Human Genetics. 135:209-222
RASopathies are autosomal dominant disorders caused by mutations in more than 10 known genes that regulate the RAS/MAPK pathway. Noonan syndrome (NS) is a RASopathy characterized by a distinctive facial appearance, musculoskeletal abnormalities, and
Publikováno v:
American journal of medical genetics. Part A. 173(9)
RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome,
Autor:
Kohei Kanaya, Yoko Aoki, Masako Yaoita, Aki Ishikawa, Toshihiko Yamashita, Tetsuya Niihori, Kousuke Iba
Publikováno v:
JBJS Case Connector. 6:e30
Case: A nine-year-old boy had multiple osteochondromas in the hands, feet, and tibiae, many of which pointed toward the adjacent joint. Although several were treated surgically, others resolved spontaneously. A heterozygous mutation in the PTPN11 gen