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Am J Hum Genet. 2003 Mar;72(3):728-32. Epub 2003 Feb 4.

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

Author information

1
Institute of Human Genetics, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

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.

PMID:
12571802
PMCID:
PMC1180248
DOI:
10.1086/368063
[Indexed for MEDLINE]
Free PMC Article

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