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Dissecting Hirschsprung disease

Nature Genetics volume 31, pages 11–12 (2002)Cite this article

Nonsyndromic Hirschsprung disease, hitherto assumed to be a multifactorial disease with a threshold effect due to an unknown number of genes, has been genetically dissected and shown to result from an interaction between just three loci, two of which have not previously been associated with the disease. Oligogenic inheritance can explain the main aspects of its genetic epidemiology.

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Figure 1: The extended abdomen that is characteristic of Hirschsprung disease.
Figure 2

BOB CRIMI

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  1. Institut für Humangenetik, Universitätsklinikum Essen, Essen, D-45122, Germany

    Eberhard Passarge

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  1. Eberhard Passarge
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Passarge, E. Dissecting Hirschsprung disease. Nat Genet 31, 11–12 (2002). https://doi.org/10.1038/ng878

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