| 1 | EKVP3, GJA1 |
| Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. | |
| Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K; Yale Center for Mendelian Genomics, Paller AS, Choate KA. | |
| J Invest Dermatol 135(6):1540-7. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14. 2015 | |