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Fetal Pediatr Pathol. 2012 Jun;31(3):128-33. doi: 10.3109/15513815.2011.648720. Epub 2012 Mar 13.

Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.

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Department of Obstetrics and Gynecology, Guangzhou Women and Childrens Medical Center, Guangzhou Medical College, Guangzhou, China.


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.

[Indexed for MEDLINE]

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