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.
Publication date
March 2003
DOI Publisher
The American Society of Human Genetics. Published by Elsevier Inc.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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