| 1 | EKV, GJB4, PSEK2 |
| The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. | |
| van Steensel MA, Oranje AP, van der Schroeff JG, Wagner A, van Geel M. | |
| Am J Med Genet A 149A(4):657-61. 2009 | |