| 1 | MDPL, POLD1 |
| An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. | |
| Weedon MN, Ellard S, Prindle MJ, Caswell R, Allen HL, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, Turnpenny P, McCann E, Goh KJ, Wang Y, Fulford J, McCulloch LJ, Savage DB, O'Rahilly S, Kos K, Loeb LA, Semple RK, Hattersley AT. | |
| Nat Genet 45(8):947-50. doi: 10.1038/ng.2670. Epub 2013 Jun 16. 2013 | |