title: [Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].
authors.affiliation: INSERM U393, 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: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: A
authors.initials: A
authors.lastname: Munnich
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000235:genetics*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3
vernacular_title: Des mutations du gène FGFR-3 sont responsables de 3 types de nanismes de sévérité variable: l'achondroplasie, le nanisme thanatophore et l'hypochondroplasie.