Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
Chen
C P
CP
Chern
S R
SR
Wang
W
W
Wang
T Y
TY
D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; 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