title: Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Patricia
authors.initials: P
authors.lastname: Lewin
authors.forename: Jean-Vital
authors.initials: JV
authors.lastname: De Monléon
authors.forename: Catherine
authors.initials: C
authors.lastname: François
authors.forename: Frédéric
authors.initials: F
authors.lastname: Huet
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Couailler
authors.forename: Ana Bélinda
authors.initials: AB
authors.lastname: Campos-Xavier
authors.forename: Jacky
authors.initials: J
authors.lastname: Bonaventure
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
mesh_terms: D019943:Amino Acid Substitution; D001842:Bone and Bones / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D010384:Pelvic Bones / Q000000981:diagnostic imaging / Q000473:pathology; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics* / Q000378:metabolism; D013131:Spine / Q000000981:diagnostic imaging / Q000473:pathology
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3