期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 72, 期 3, 页码 728-732出版社
CELL PRESS
DOI: 10.1086/368063
关键词
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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.
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