title: Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation.
authors.affiliation: Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago, Japan. yuki.kawashima@med.tottori-u.ac.jp.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kawashima
authors.forename: Fumihiko
authors.initials: F
authors.lastname: Hakuno
authors.forename: Shin-ichi
authors.initials: S
authors.lastname: Okada
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Hotsubo
authors.forename: Tomoe
authors.initials: T
authors.lastname: Kinoshita
authors.forename: Masanobu
authors.initials: M
authors.lastname: Fujimoto
authors.forename: Rei
authors.initials: R
authors.lastname: Nishimura
authors.forename: Toshiaki
authors.initials: T
authors.lastname: Fukushima
authors.forename: Keiichi
authors.initials: K
authors.lastname: Hanaki
authors.forename: Shin-ichiro
authors.initials: S
authors.lastname: Takahashi
authors.forename: Susumu
authors.initials: S
authors.lastname: Kanzaki
mesh_terms: D000293:Adolescent; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics; D017526:Receptor, IGF Type 1 / Q000235:genetics*
chemical_list: D017526:Receptor, IGF Type 1