title: Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
authors.forename: G
authors.initials: G
authors.lastname: Mortier
authors.forename: L
authors.initials: L
authors.lastname: Nuytinck
authors.forename: M
authors.initials: M
authors.lastname: Craen
authors.forename: J P
authors.initials: JP
authors.lastname: Renard
authors.forename: J G
authors.initials: JG
authors.lastname: Leroy
authors.forename: A
authors.initials: A
authors.lastname: de Paepe
mesh_terms: D000130:Achondroplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D019943:Amino Acid Substitution; D001216:Asparagine / Q000235:genetics; D002648:Child; D005260:Female; D006801:Humans; D009154:Mutation; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012694:Serine / Q000235:genetics
chemical_list: D017468:Receptors, Fibroblast Growth Factor; D012694:Serine; D001216:Asparagine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3