title: Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.
authors.affiliation: ST4 Paediatrics Paediatric Histopathology, Alder Hey Children's Hospital Clinical Genetics, Mersey and Cheshire Regional Genetics Service Liverpool Women's Hospital, Liverpool, UK.
authors.forename: Christopher
authors.initials: C
authors.lastname: Barton
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Sweeney
authors.forename: Devender
authors.initials: D
authors.lastname: Roberts
authors.forename: Jo
authors.initials: J
authors.lastname: McPartland
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011180:Postmortem Changes; D011247:Pregnancy; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D016216:Ultrasonography, Prenatal
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3