エントリ 名称 IGF-I resistance
概要 Growth delay due to IGF-I resistance (IGF1RES) is characterised by variable prenatal and postnatal growth retardation and elevated serum IGF-I levels. It has been described that the defects in the IGF-IR gene cause postnatal growth failure.
カテゴリ 内分泌代謝疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ hsa04914 Progesterone-mediated oocyte maturation
ネットワーク 病因遺伝子 リンク 文献 著者 Abuzzahab MJ, Schneider A, Goddard A, Grigorescu F, Lautier C, Keller E, Kiess W, Klammt J, Kratzsch J, Osgood D, Pfaffle R, Raile K, Seidel B, Smith RJ, Chernausek SD
タイトル IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation.
雑誌 文献 著者 Kawashima Y, Kanzaki S, Yang F, Kinoshita T, Hanaki K, Nagaishi J, Ohtsuka Y, Hisatome I, Ninomoya H, Nanba E, Fukushima T, Takahashi S
タイトル Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation.
雑誌 LinkDB All DBs
