| 1 | BSCGS2, FGFR3 |
| Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3. | |
| Roscioli T, Flanagan S, Mortimore RJ, Kumar P, Weedon D, Masel J, Lewandowski R, Hyland V, Glass IA. | |
| Am J Med Genet 101(3):187-94. 2001 | |