Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.
Chen
Chih-Ping
CP
Chern
Schu-Rern
SR
Chang
Tung-Yao
TY
Lin
Chen-Ju
CJ
Wang
Wayseen
W
Tzen
Chin-Yuan
CY
D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D016216:Ultrasonography, Prenatal
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3