Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
โ Scribed by Tavormina, Patricia L.; Shiang, Rita; Thompson, Leslie M.; Zhu, Ya-Zhen; Wilkin, Douglas J.; Lachman, Ralph S.; Wilcox, William R.; Rimoin, David L.; Cohn, Daniel H.; Wasmuth, John J.
- Book ID
- 109915422
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 951 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1061-4036
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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 po