- A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Tavormina, P.L., Bellus, G.A., Webster, M.K., Bamshad, M.J., Fraley, A.E., McIntosh, I., Szabo, J., Jiang, W., Jabs, E.W., Wilcox, W.R., Wasmuth, J.J., Donoghue, D.J., Thompson, L.M., Francomano, C.A. Am. J. Hum. Genet. (1999)