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References

1. Blair HJ, Tompson S, Liu YN, Campbell J, MacArthur K, Ponting CP, Ruiz-PerezVL, Goodship JA. Evc2 is a positive modulator of Hedgehog signalling thatinteracts with Evc at the cilia membrane and is also found in the nucleus. BMCBiol. 2011 Feb 28;9:14. doi: 10.1186/1741-7007-9-14.
2. Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW.Autosomal dominant postaxial polydactyly, nail dystrophy, and dentalabnormalities map to chromosome 4p16, in the region containing the Ellis-vanCreveld syndrome locus. Am J Hum Genet. 1997 Dec;61(6):1405-12.
3. Morrell CH, Brant LJ. Modelling hearing thresholds in the elderly. Stat Med.1991 Sep;10(9):1453-64.
4. Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN,Miles C, Peters H, Goodship JA. Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development. 2007Aug;134(16):2903-12.
5. Ruiz-Perez VL, Goodship JA. Ellis-van Creveld syndrome and Weyers acrodentaldysostosis are caused by cilia-mediated diminished response to hedgehog ligands. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):341-51. doi:10.1002/ajmg.c.30226. Review.
6. 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. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. 2000Mar;24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125.
7. Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO,Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. Mutations in twononhomologous genes in a head-to-head configuration cause Ellis-van Creveldsyndrome. Am J Hum Genet. 2003 Mar;72(3):728-32.
8. Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW. Analysis of Ellis vanCreveld syndrome gene products: implications for cardiovascular development anddisease. Hum Mol Genet. 2009 May 15;18(10):1813-24. doi: 10.1093/hmg/ddp098.
9. Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, WrightMJ, Goodship JA. Sequencing EVC and EVC2 identifies mutations in two-thirds ofEllis-van Creveld syndrome patients. Hum Genet. 2007 Jan;120(5):663-70.
10. Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-AjlouniO, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S,Aglan M, Goodship JA, Ruiz-Perez VL. Widening the mutation spectrum of EVC andEVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disruptsHedgehog signaling. Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117.