Abstract
Ellis-van Creveld syndrome(EvC)is an autosomal recessive chondrodysplasia characterized by short limbs and short ribs,postaxial polydactyly,dysplastic nails and teeth,atrial septal or atrioventricular septal defect and single atrium.EvC revealed genetic heterogeneity,and are caused by mutations of EVC or EVC2 gene.Weyers acrodental dysostosis,an autosomal dominant inherited disease,has the similar clinical manifestation and is allelic heterogeneity of EvC syndrome.Here,we review the latest progression of the relationship between EVC、EVC2 and two hereditary diseases. Key words: EVC; EVC2; Ellis-van Creveld syndrome; Weyers acrodental dysostosis
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