| 1 | RIPPLY2, SCDO6 |
| Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. | |
| McInerney-Leo AM, Sparrow DB, Harris JE, Gardiner BB, Marshall MS, O'Reilly VC, Shi H, Brown MA, Leo PJ, Zankl A, Dunwoodie SL, Duncan EL. | |
| Hum Mol Genet 24(5):1234-42. doi: 10.1093/hmg/ddu534. Epub 2014 Oct 24. 2015 | |