title: A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
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 Pediatrics (Neonates), Toyohashi Municipal Hospital, Aichi, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Kouwaki
authors.affiliation: Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan.
authors.forename: Koya
authors.initials: K
authors.lastname: Kawase
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 Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Hasegawa
authors.affiliation: Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Hokkaido, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yamada
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Miyagi, Japan.
authors.forename: Ikuma
authors.initials: I
authors.lastname: Fujiwara
authors.affiliation: Department of Obstetrics and Gynecology, Hyogo College of Medicine, Hyogo, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Sawai
authors.affiliation: Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D001848:Bone Diseases, Developmental / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000737:chemistry / Q000235:genetics*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3