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Ellis-van Creveld syndrome and the Amish

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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McKusick, V. Ellis-van Creveld syndrome and the Amish. Nat Genet 24, 203–204 (2000). https://doi.org/10.1038/73389

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