The Land Between Mendelian and Multifactorial Inheritance
- 21 September 2001
- journal article
- editorial
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 293 (5538), 2213-2214
- https://doi.org/10.1126/science.1065930
Abstract
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.Keywords
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