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.
CITATION STYLE
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011). Ciliopathies. New England Journal of Medicine, 364(16), 1533–1543. https://doi.org/10.1056/nejmra1010172
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