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Ellis-van Creveld syndrome and the Amish

Nature Genetics volume 24, pages 203204 (2000) | Download Citation

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Genetic studies often involve the cooperation of large numbers of affected persons and their families. The discovery of the gene that, when mutated, causes a form of dwarfism (Ellis-van Creveld syndrome) has been accelerated through a collaborative effort between geneticists and the Old Order Amish, of Lancaster County, Pennsylvania.

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Affiliations

  1. Institute of Genetic Medicine, Johns Hopkins Hospital , Baltimore, Maryland 21287, USA . mckusick@peas.welch.jhu.edu

    • Victor A McKusick

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DOI

https://doi.org/10.1038/73389

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