The Land Between Mendelian and Multifactorial Inheritance

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Science  21 Sep 2001:
Vol. 293, Issue 5538, pp. 2213-2214
DOI: 10.1126/science.1065930

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Bardet-Biedl syndrome (BBS) is a heterogeneous multigenic disease that turns out to have an unusual form of inheritance ( Katsanis et al.). As Burghes et al. explain in their Perspective, the disease phenotype only appears if one copy of a modifier gene at one of five loci is mutated in addition to the two copies of the BBS gene at the sixth locus.