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Article

Ciliary disorder of the skeleton

12 Jul 2012

Abstract excerpt

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...

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PMID: 22791528
DOI: 10.1002/ajmg.c.31336

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