| 1 | EVC, EVC2, WAD |
| Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. | |
| Ruiz-Perez VL, Goodship JA. | |
| Am J Med Genet C Semin Med Genet 151C(4):341-51. Review. 2009 | |
| 2 | EVC2, WAD |
| A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. | |
| Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z. | |
| Hum Genet 119(1-2):199-205. Epub 2006 Jan 11. 2006 | |
| 3 | EVC, STK32B, WAD |
| Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. | |
| Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L,Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M,Meitinger T, Polymeropoulos MH, Goodship J. | |
| Nat Genet 24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125. 2000 | |
| 4 | WAD |
| Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16 in the region containing the Ellis-van Creveld syndrome locus. (abstr) | |
| McKinnon W, et al. | |
| Am J Hum Genet 61 : A48. 1997 | |