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Genomics. 1996 Jul 1;35(1):1-5.

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

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  • 1Gene Mapping Unit, Laboratory of Genetic Disease Research, National Center for Human Genome Research, National Institutes of Health, Building 49, Bethesda, Maryland, 20892, USA.


Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease. This rare disorder is found with increased frequency among the Old Order Amish community in Lancaster County, Pennsylvania. We have used linkage analysis to localize the gene responsible for the EVC phenotype in nine interrelated Amish pedigrees and three unrelated families from Mexico, Ecuador, and Brazil. We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype.

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