title: Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Tung-Yao
authors.initials: TY
authors.lastname: Chang
authors.forename: Chen-Ju
authors.initials: CJ
authors.lastname: Lin
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
authors.forename: Chin-Yuan
authors.initials: CY
authors.lastname: Tzen
mesh_terms: 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
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3