Ciliopathies
Top Cited Papers
- 21 April 2011
- journal article
- review article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 364 (16), 1533-1543
- https://doi.org/10.1056/nejmra1010172
Abstract
A ciliopathy is a disease in which a hairlike cellular organelle called the cilium is dysfunctional. Most proteins altered in these single-gene disorders function at the level of the cilium–centrosome complex. This review considers the role of the cilium in disease.Keywords
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