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  • Title: Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.
    Author: Yang Y, Liu YN, Li DZ.
    Journal: Fetal Pediatr Pathol; 2012 Jun; 31(3):128-33. PubMed ID: 22414243.
    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.
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