Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.

@article{Sawai1999PrenatalDO,
  title={Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.},
  author={Hideaki Sawai and Shinji Komori and Akiko Ida and Tatsuhiko Henmi and T. Bessho and Koji Koyama},
  journal={Prenatal diagnosis},
  year={1999},
  volume={19 1},
  pages={
          21-4
        }
}
Thanatophoric dysplasia (TD) is the most frequent form of neonatal lethal skeletal dysplasia. Recently. mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that cause two subtypes of this disorder, type I (TDI) and type II (TDII), have been identified. This discovery has now made it possible to make a definite diagnosis of TD by molecular methods. To date, prenatal diagnosis of TD has been accomplished by ultrasonography in the second trimester. However, it is not always possible… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 14 CITATIONS

Thanatophoric dysplasia Authors : Professor

VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan

A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester

VIEW 2 EXCERPTS
CITES BACKGROUND

A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation

VIEW 1 EXCERPT
CITES BACKGROUND

Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletal dysplasias: a three-dimensional ultrasound assessment.

VIEW 1 EXCERPT
CITES BACKGROUND