Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.
Barton
Christopher
C
ST4 Paediatrics Paediatric Histopathology, Alder Hey Children's Hospital Clinical Genetics, Mersey and Cheshire Regional Genetics Service Liverpool Women's Hospital, Liverpool, UK.
Sweeney
Elizabeth
E
Roberts
Devender
D
McPartland
Jo
J
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
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3