Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients

Ellis-van Creveld syndrome (EvC) is caused by mutations in EVC and EVC2, genes in a divergent orientation separated by only 2.6 kb. We systematically sought mutations in both genes in a panel of 65 affected individuals to assess the proportion of cases resulting from mutations in each gene. We PCR a...

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