Ciliopathies
F Hildebrandt, T Benzing… - New England Journal of …, 2011 - Mass Medical Soc
F Hildebrandt, T Benzing, N Katsanis
New England Journal of Medicine, 2011•Mass Medical SocCiliopathies | NEJM Skip to main content NEJM Group Follow Us Facebook Twitter Instagram
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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.
The New England Journal Of Medicine