| 1 | RAB33B, SMCD2 |
| A novel RAB33B mutation in Smith-McCort dysplasia. | |
| Dupuis N, Lebon S, Kumar M, Drunat S, Graul-Neumann LM, Gressens P, El Ghouzzi V. | |
| Hum Mutat 34(2):283-6. doi: 10.1002/humu.22235. Epub 2012 Nov 8. 2013 | |
| 2 | RAB33B, SMCD2 |
| Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. | |
| Alshammari MJ, Al-Otaibi L, Alkuraya FS. | |
| J Med Genet 49(7):455-61. doi: 10.1136/jmedgenet-2011-100666. Epub 2012 May 31. 2012 | |