| 1 | COL4A1, WLKWS9 |
| Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations. | |
| Kuo DS, Labelle-Dumais C, Mao M, Jeanne M, Kauffman WB, Allen J, Favor J, Gould DB. | |
| Hum Mol Genet 23(7):1709-22. doi: 10.1093/hmg/ddt560. Epub 2013 Nov 7. 2014 | |
| 2 | COL4A1, WLKWS9 |
| COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. | |
| Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. | |
| PLoS Genet 7(5):e1002062. doi: 10.1371/journal.pgen.1002062. Epub 2011 May 19. 2011 | |