title: A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia.
authors.affiliation: Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki City, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Imamura
authors.forename: T
authors.initials: T
authors.lastname: Kondoh
authors.forename: T
authors.initials: T
authors.lastname: Kamei
authors.forename: A
authors.initials: A
authors.lastname: Tsuru
authors.forename: Y
authors.initials: Y
authors.lastname: Shimasaki
authors.forename: E
authors.initials: E
authors.lastname: Kinoshita
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Moriuchi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000130:Achondroplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood; D002658:Developmental Disabilities; D005260:Female; D006801:Humans; D007223:Infant; D016133:Polymerase Chain Reaction; D011859:Radiography; D012131:Respiratory Insufficiency
chemical_list: D003402:Creatine Kinase