Article
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi - 1 Jan 2000
Tsai F J, Tsai L P, Lin S P, Tsai C H, Peng C T, Wang T R, Lee C C, Wu J Y
Abstract excerpt
Thanatophoric dysplasia (TD) is the most common form of lethal neonatal dwarfism with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced thoracic cavity. R248C mutation in the extracellular domain of fibrobast growth factor receptor 3 (FGFR3) was common in TD type I. Two TD type I patients were examined for R248C mutation by use of restriction digestion and direct sequencing. The results...
Topics
- Humans
- Infant, Newborn
- Mutation
- Receptors, Fibroblast Growth Factor
- Thanatophoric Dysplasia