| 1 | BBDS, FGFR2 |
| FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination. | |
| Neben CL, Tuzon CT, Mao X, Lay FD, Merrill AE. | |
| Hum Mol Genet 26(17):3253-3270. doi: 10.1093/hmg/ddx209. 2017 | |
| 2 | BBDS, FGFR2 |
| Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. | |
| Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D. | |
| Am J Hum Genet 90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1. 2012 | |