| 1 | KCNJ6, KPLBS |
| Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K(+) Channel Encoded by KCNJ6. | |
| Masotti A, Uva P, Davis-Keppen L, Basel-Vanagaite L, Cohen L, Pisaneschi E, Celluzzi A, Bencivenga P, Fang M, Tian M, Xu X, Cappa M, Dallapiccola B. | |
| Am J Hum Genet 96(2):295-300. doi: 10.1016/j.ajhg.2014.12.011. Epub 2015 Jan 22. 2015 | |
| 2 | KPLBS |
| Keppen-Lubinsky syndrome: Expanding the phenotype. | |
| Basel-Vanagaite L, Shaffer L, Chitayat D. | |
| Am J Med Genet A 149A(8):1827-9. doi: 10.1002/ajmg.a.32975. No abstract available. 2009 | |
| 3 | KPLBS |
| New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome? | |
| De Brasi D, Brunetti-Pierri N, Di Micco P, Andria G, Sebastio G. | |
| Am J Med Genet A 117A(2):194-5. No abstract available. 2003 | |