Ontology highlight
ABSTRACT:
SUBMITTER: Ruiz-Perez VL
PROVIDER: S-EPMC1180248 | biostudies-literature | 2003 Mar
REPOSITORIES: biostudies-literature
American journal of human genetics 20030204 3
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. ...[more]