title: Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.
abstract: Thanatophoric dysplasia (TD) is a relatively common lethal skeletal dysplasia. These malformations result from the mutations in fibroblast growth factor receptor 3 (FGFR3) gene, which is located on the short arm of chromosome 4. Accurate diagnosis of fetal TD is important for patient counseling and to plan the management. A definite diagnosis can be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We reported on two cases of TD type I found by prenatal ultrasound and confirmed by molecular analysis of FGFR3 gene using high-resolution melting analysis.
authors.affiliation: Department of Obstetrics and Gynecology, Guangzhou Women and Childrens Medical Center, Guangzhou Medical College, Guangzhou, China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Yang
authors.forename: Ying-Na
authors.initials: YN
authors.lastname: Liu
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000328:Adult; D001483:Base Sequence; D005260:Female; D005315:Fetal Diseases; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis / Q000235:genetics; D011296:Prenatal Diagnosis / Q000379:methods*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D013796:Thanatophoric Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3