| 1 | BMPR1B, BDC3, BDA2 |
| A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. | |
| Lehmann K, Seemann P, Boergermann J, Morin G, Reif S, Knaus P, Mundlos S. | |
| Eur J Hum Genet 14(12):1248-54. Epub 2006 Sep 6. 2006 | |