title: [Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].
authors.affiliation: INSERM U 393, Hôpital des Enfants Malades, Paris.
authors.forename: F
authors.initials: F
authors.lastname: Rousseau
authors.forename: J
authors.initials: J
authors.lastname: Bonaventure
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3
vernacular_title: Association de l'achondroplasie à une mutation dans le domaine transmembranaire du récepteur 3 des facteurs de croissance fibroblastiques (FGFR3).