| 1 | EFCAB7, EVC, EVC2
|
| Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
|
| Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M.
|
| Congenit Anom (Kyoto) 56(5):209-16. doi: 10.1111/cga.12155.
2016
|
| 2 | EVC, EVC2, GLI3, SMO
|
| 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.
|
| 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.
|
| Hum Mol Genet 22(1):124-39. doi: 10.1093/hmg/dds409. Epub 2012 Oct 1. 2013
|
| 3 | EVC, EVC2
|
| Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
|
| Ali BR, Akawi NA, Chedid F, Bakir M, Ur Rehman M, Rahmani A, Al-Gazali L.
|
| BMC Med Genet 11:33.
2010
|
| 4 | 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
|
| 5 | EVC, EVC2
|
| Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
|
| Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW.
|
| Hum Mol Genet 18(10):1813-24. Epub 2009 Feb 27.
2009
|
| 6 | EVC, EVC2
|
| Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
|
| 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.
|
| Hum Mutat 30(12):1667-75.
2009
|
| 7 | EVC, EVC2
|
| Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
|
| Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG.
|
| BMC Med Genet 9:92.
2008
|
| 8 | EVC, EVC2
|
| Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
|
| Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA.
|
| Hum Genet 120(5):663-70. Epub 2006 Sep 21. 2007
|
| 9 | 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
|
| 10 | EVC, EVC2
|
| Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
|
| Takamine Y, Krejci P, Mekikian PB, Wilcox WR.
|
| Am J Med Genet 130A(1):96-7. No abstract available. 2004
|
| 11 | EVC, EVC2
|
| Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
|
| Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA.
|
| Am J Hum Genet 72(3):728-32. 2003
|
| 12 | EVC2
|
| Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism.
|
| Takeda H, Takami M, Oguni T, Tsuji T, Yoneda K, Sato H, Ihara N, Itoh T, Kata SR, Mishina Y, Womack JE, Moritomo Y, Sugimoto Y, Kunieda T.
|
| Proc Natl Acad Sci U S A 99(16):10549-54. 2002
|
| 13 | EVC, EVC2
|
| A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
|
| Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, A Egeland J, Ginns EI.
|
| Mol Genet Metab 77(4):291-5. 2002
|