An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)
Camera
G
G
Baldi
M
M
Baffico
M
M
Pozzolo
S
S
D001120:Arginine / Q000235:genetics; D003553:Cystine / Q000235:genetics; D005333:Fetus / Q000000981:diagnostic imaging; D005865:Gestational Age; D006801:Humans; D009154:Mutation; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging* / Q000235:genetics
D017468:Receptors, Fibroblast Growth Factor; D003553:Cystine; D001120:Arginine; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3