First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia.
Sophie
S
Delahaye
Jonathan
J
Rosenblatt
Jean-Marc
JM
Costa
Anne
A
Bazin
Jean-Louis
JL
Bénifla
Jean-Marie
JM
Jouannic
D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques / Q000379:methods*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D014463:Ultrasonography
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3