| 1 | DDD3, POGLUT1 |
| Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. | |
| Wilson NJ, Cole C, Kroboth K, Hunter WN, Mann JA, McLean WH, Kernland Lang K, Beltraminelli H, Sabroe RA, Tiffin N, Sobey GJ, Borradori L, Simpson E, Smith FJ. | |
| Br J Dermatol. Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24. 2017 | |
| 2 | DDD3, POGLUT1 |
| Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. | |
| Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC. | |
| Am J Hum Genet 94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003. 2014 | |