| 1 | ARCC9, SIPA1L3 |
| Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. | |
| Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. | |
| Hum Mol Genet 24(20):5789-804. doi: 10.1093/hmg/ddv298. Epub 2015 Jul 30. 2015 | |
| 2 | ARCC9, SIPA1L3 |
| SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. | |
| Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U. | |
| Eur J Hum Genet 23(12):1627-33. doi: 10.1038/ejhg.2015.46. Epub 2015 Mar 25. 2015 | |