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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.[1]

References

  1. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Ruiz-Perez, V.L., Tompson, S.W., Blair, H.J., Espinoza-Valdez, C., Lapunzina, P., Silva, E.O., Hamel, B., Gibbs, J.L., Young, I.D., Wright, M.J., Goodship, J.A. Am. J. Hum. Genet. (2003) [Pubmed]
 
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