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Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Ruiz-Perez, Victor L., Stuart Tompson, W.J., Helen Blair, J., Espinoza-Valdez, Cecilia, Lapunzina, Pablo, Silva, Elias O., Hamel, Ben, Gibbs, John L., Young, Ian D., Wright, Michael J., Goodship, Judith A.·2003·The American Journal of Human Genetics
DOI 10.1086/368063
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Abstract

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.

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Research works printed but not linked: 15

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Metadata

Authors
Ruiz-Perez, V. L., Stuart Tompson, W. J., Helen Blair, J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., & Goodship, J. A.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2003-03
Volume
72
Issue
3
Pages
728-732
ISSN
0002-9297
DOI
10.1086/368063
Cited by
187
References
1
Language
en
Licence

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