title: A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Kosei
authors.initials: K
authors.lastname: Hasegawa
authors.affiliation: Department of Neonatalogy, Hiroshima Prefectural Hospital, Hiroshima, Japan.
authors.forename: Rie
authors.initials: R
authors.lastname: Fukuhara
authors.affiliation: Department of Pediatrics, Iwakuni Clinical Center, National Hospital Organization, Iwakuni, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Moriwake
authors.affiliation: Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tanaka
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Yousuke
authors.initials: Y
authors.lastname: Higuchi
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Yamashita
authors.affiliation: Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Tsukahara
mesh_terms: D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3