title: Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
authors.forename: F
authors.initials: F
authors.lastname: Rousseau
authors.forename: P
authors.initials: P
authors.lastname: Saugier
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: A L
authors.initials: AL
authors.lastname: Delezoide
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: J
authors.initials: J
authors.lastname: Bonaventure
authors.forename: F
authors.initials: F
authors.lastname: Narcy
authors.forename: M
authors.initials: M
authors.lastname: Sanak
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D018388:Codon, Terminator; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; 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: D018388:Codon, Terminator; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3