Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
Publication year
2003Source
American Journal of Human Genetics, 72, 3, (2003), pp. 728-32ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
American Journal of Human Genetics
Volume
vol. 72
Issue
iss. 3
Page start
p. 728
Page end
p. 32
Subject
UMCN 5.1: Genetic defects of metabolismAbstract
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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- Academic publications [227425]
- Faculty of Medical Sciences [86157]
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