Ciliary disorder of the skeleton.

  title={Ciliary disorder of the skeleton.},
  author={C{\'e}line Huber and Val{\'e}rie Cormier-Daire},
  journal={American journal of medical genetics. Part C, Seminars in medical genetics},
  volume={160C 3},
In the last 10 years, the primary cilia machinery has been implicated in more than a dozen disorders united as ciliopathies, including skeletal dysplasias, such as Jeune syndrome and short rib-polydactyly type III. Indeed, primary cilia play a vital role in transduction of signals in the hedgehog pathway that is especially important in skeletal development. In this review, we focus on skeletal conditions belonging to the ciliopathy group: the short rib-polydactyly group (SRPs) that includes… CONTINUE READING


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