- Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y.Z., Wilkin, D.J., Lachman, R.S., Wilcox, W.R., Rimoin, D.L., Cohn, D.H., Wasmuth, J.J. Nat. Genet. (1995)