title: [Thanatophoric dysplasia].
authors.affiliation: Department of Pediatrics, Chitose Municipal Hospital.
authors.forename: H
authors.initials: H
authors.lastname: Tonoki
mesh_terms: D002875:Chromosomes / Q000235:genetics; D003937:Diagnosis, Differential; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D011379:Prognosis; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013577:Syndrome; D013796:Thanatophoric Dysplasia / Q000235:genetics / Q000503:physiopathology
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3