Lookup NU author(s): Dr Victor Ruiz-Perez,
Dr Stuart Tompson,
Dr Helen Blair,
Dr Michael Wright,
Professor Judith Goodship
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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.
Author(s): Ruiz-Perez VL, Tompson SWJ, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA
Publication type: Article
Publication status: Published
Journal: American Journal of Human Genetics
ISSN (print): 0002-9297
ISSN (electronic): 1537-6605
Publisher: Cell Press
PubMed id: 12571802
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