title: A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.|Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.affiliation: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Shinohara
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.|Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Nagashima
authors.affiliation: Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Hasegawa
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Narumi
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. thaseg@a6.keio.jp.
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
mesh_terms: D000293:Adolescent; D000365:Age Determination by Skeleton; D015992:Body Mass Index; D002648:Child; D016368:Frameshift Mutation; D005799:Genes, Dominant; D006130:Growth Disorders / Q000097:blood / Q000235:genetics*; D013006:Growth Hormone / Q000627:therapeutic use; D020249:Hormone Replacement Therapy / Q000379:methods; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000032:analysis* / Q000235:genetics; D008297:Male; D010908:Pituitary Hormones, Anterior; D011986:Receptors, Somatotropin / Q000235:genetics*; D013737:Testis / Q000033:anatomy & histology
chemical_list: C583557:IGF1 protein, human; D010908:Pituitary Hormones, Anterior; D011986:Receptors, Somatotropin; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone