{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:33:14Z","timestamp":1791325994363,"version":"4.3.1"},"reference-count":97,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,7,12]],"date-time":"2012-07-12T00:00:00Z","timestamp":1342051200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2012,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    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\u2010polydactyly type III. Indeed, primary cilia play a vital role in transduction of signals in the\n                    <jats:italic>hedgehog<\/jats:italic>\n                    pathway that is especially important in skeletal development. In this review, we focus on skeletal conditions belonging to the ciliopathy group: the short rib\u2010polydactyly group (SRPs) that includes Verma\u2013Naumoff syndrome (SRP type III), Majewski syndrome (SRP type II), Jeune syndrome (ATD), as well as Ellis\u2013van Creveld syndrome (EVC), the Sensenbrenner syndrome, and, finally, Weyers acrofacial dysostosis. Today, 10 different genes have been identified as responsible for seven \u201cskeletal\u201d ciliopathies. Mutations have been identified in dynein motor (\n                    <jats:italic>DYNC2H1<\/jats:italic>\n                    ), in intraflagellar transport (IFT) complexes (\n                    <jats:italic>IFT80<\/jats:italic>\n                    ,\n                    <jats:italic>IFT122<\/jats:italic>\n                    ,\n                    <jats:italic>IFT43<\/jats:italic>\n                    ,\n                    <jats:italic>WDR35<\/jats:italic>\n                    ,\n                    <jats:italic>WDR19<\/jats:italic>\n                    , and\n                    <jats:italic>TTC21B<\/jats:italic>\n                    ) as well as in genes responsible for the basal body (\n                    <jats:italic>NEK1<\/jats:italic>\n                    ,\n                    <jats:italic>EVC<\/jats:italic>\n                    , and\n                    <jats:italic>EVC2<\/jats:italic>\n                    ). The wide clinical variability observed for an individual ciliopathy gene supports the development of exome strategy specifically dedicated to cilia genes to identify mutations in this particularly heterogeneous group of disorders. \u00a9 2012 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.31336","type":"journal-article","created":{"date-parts":[[2012,7,13]],"date-time":"2012-07-13T13:49:59Z","timestamp":1342187399000},"page":"165-174","source":"Crossref","is-referenced-by-count":236,"title":["Ciliary disorder of the 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