| 1 | ARCN1, MGMD |
| ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. | |
| Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K. | |
| Am J Hum Genet 99(2):451-9. doi: 10.1016/j.ajhg.2016.06.011. Epub 2016 Jul 28. 2016 | |