| 1 | EFCAB7, EVC, EVC2
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| Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
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| Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M.
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| Congenit Anom (Kyoto) 56(5):209-16. doi: 10.1111/cga.12155.
2016
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| 2 | EVC, EVC2, GLI3, SMO
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| The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
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| Caparrós-Martín JA, Valencia M, Reytor E, Pacheco M, Fernandez M, Perez-Aytes A, Gean E, Lapunzina P, Peters H, Goodship JA, Ruiz-Perez VL.
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| Hum Mol Genet 22(1):124-39. doi: 10.1093/hmg/dds409. Epub 2012 Oct 1. 2013
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| 3 | EVC
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| Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report.
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| Aminabadi NA, Ebrahimi A, Oskouei SG.
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| J Oral Sci 52(2):333-6.
2010
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| 4 | EVC, EVC2
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| Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
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| Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L.
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| BMC Med Genet 11:33.
2010
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| 5 | EVC, EVC2, WAD
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| Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
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| Ruiz-Perez VL, Goodship JA.
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| Am J Med Genet C Semin Med Genet 151C(4):341-51. Review.
2009
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| 6 | EVC, EVC2
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| Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
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| Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW.
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| Hum Mol Genet 18(10):1813-24. Epub 2009 Feb 27.
2009
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| 7 | EVC, EVC2
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| Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
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| Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL.
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| Hum Mutat 30(12):1667-75.
2009
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| 8 | EVC, EVC2
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| Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
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| Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG.
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| BMC Med Genet 9:92.
2008
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| 9 | EVC, EVC2
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| Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
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| Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA.
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| Hum Genet 120(5):663-70. Epub 2006 Sep 21. 2007
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| 10 | EVC
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| Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia.
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| Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA.
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| Development 134(16):2903-12.
2007
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| 11 | EVC, EVC2
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| Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
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| Takamine Y, Krejci P, Mekikian PB, Wilcox WR.
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| Am J Med Genet 130A(1):96-7. No abstract available. 2004
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| 12 | CRMP1, EVC
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| Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes.
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| Sivakumaran TA, Lesperance MM.
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| Int J Mol Med 14(5):903-7. 2004
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| 13 | EVC, EVC2
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| Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
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| Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA.
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| Am J Hum Genet 72(3):728-32. 2003
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| 14 | EVC, EVC2
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| A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
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| Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, A Egeland J, Ginns EI.
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| Mol Genet Metab 77(4):291-5. 2002
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| 15 | EVC, STK32B, WAD
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| Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
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| 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.
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| Nat Genet 24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125. 2000
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| 16 | EVC
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| The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.
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| Polymeropoulos MH, et al.
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| Genomics 35 : 1-5. 1996
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| 17 | EVC, MSX1
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| Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.
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| Ide SE, et al.
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| Hum Genet 98 : 572-575. 1996
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