| 1 | ECDM2, PTPN11 |
| SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. | |
| Bowen ME, Ayturk UM, Kurek KC, Yang W, Warman ML. | |
| PLoS Genet 10(5):e1004364. doi: 10.1371/journal.pgen.1004364. eCollection 2014. 2014 | |
| 2 | ECDM2, PTPN11 |
| Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. | |
| Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML. | |
| PLoS Genet 7(4):e1002050. Epub 2011 Apr 14. 2011 | |