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

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.

Publication metadata

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

Year: 2003

Volume: 72

Issue: 3

Pages: 728-732

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1086/368063

PubMed id: 12571802


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