{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T14:25:08Z","timestamp":1778509508209,"version":"3.51.4"},"reference-count":83,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T00:00:00Z","timestamp":1649376000000},"content-version":"vor","delay-in-days":38,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ellis\u2013van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of <jats:italic>EVC<\/jats:italic> and <jats:italic>EVC2<\/jats:italic> genes and classified as a ciliopathy. The syndrome is caused by mutations in the <jats:italic>EVC<\/jats:italic> gene on chromosome 4p16, and <jats:italic>EVC2<\/jats:italic> gene, located close to the <jats:italic>EVC<\/jats:italic> gene, in a head\u2010to\u2010head configuration. Regardless of the affliction of <jats:italic>EVC<\/jats:italic> or <jats:italic>EVC2<\/jats:italic>, the clinical features of Ellis\u2013van Creveld syndrome are similar. Both these genes are expressed in tissues such as, but not limited to, the heart, liver, skeletal muscle, and placenta, while the predominant expression in the craniofacial tissues is that of <jats:italic>EVC2<\/jats:italic>. Biallelic mutations of <jats:italic>EVC<\/jats:italic> and <jats:italic>EVC2<\/jats:italic> affect Hedgehog signaling and thereby ciliary function, crucial factors in vertebrate development, culminating in the phenotypical features characteristic of EvC. The clinical features of Ellis\u2013van Creveld syndrome are consistent with significant abnormalities in morphogenesis and differentiation of the affected tissues. The robust role of primary cilia in histodifferentiation and morphodifferentiation of oral, perioral, and craniofacial tissues is becoming more evident in the most recent literature. In this review, we give a summary of the mechanistic role of primary cilia in craniofacial development, taking Ellis\u2013van Creveld syndrome as a representative example.<\/jats:p>","DOI":"10.1002\/ajmg.c.31969","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T07:26:34Z","timestamp":1649402794000},"page":"36-46","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis\u2013van Creveld syndrome"],"prefix":"10.1002","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6205-2899","authenticated-orcid":false,"given":"Davis C.","family":"Thomas","sequence":"first","affiliation":[{"name":"Center for TMD and Orofacial Pain Rutgers School of Dental Medicine  Newark New Jersey USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janani Dakshina","family":"Moorthy","sequence":"additional","affiliation":[{"name":"GeneAura Pvt. Ltd.  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaishnavi","family":"Prabhakar","sequence":"additional","affiliation":[{"name":"M.G.R. Educational and Research Institute  Chennai India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahana","family":"Ajayakumar","sequence":"additional","affiliation":[{"name":"St Gregorious Dental Center  Adoor India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priyanka Kodaganallur","family":"Pitchumani","sequence":"additional","affiliation":[{"name":"The Ohio State University College of Dentistry  Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,8]]},"reference":[{"key":"e_1_2_15_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/jdb7020009"},{"key":"e_1_2_15_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.63"},{"issue":"7","key":"e_1_2_15_4_1","first-page":"E340","article-title":"Ellis\u2013van Creveld syndrome. Case report and literature review","volume":"14","author":"Alves\u2010Pereira D.","year":"2009","journal-title":"Medicina Oral, Patolog\u00eda Oral y Cirug\u00eda Bucal"},{"key":"e_1_2_15_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/dgd.12668"},{"key":"e_1_2_15_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2020.105236"},{"key":"e_1_2_15_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0116-9"},{"key":"e_1_2_15_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.05.033"},{"key":"e_1_2_15_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/0970-9290.62791"},{"key":"e_1_2_15_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30231"},{"key":"e_1_2_15_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028175"},{"key":"e_1_2_15_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb3091"},{"key":"e_1_2_15_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2020.10.084"},{"key":"e_1_2_15_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv152"},{"key":"e_1_2_15_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds409"},{"key":"e_1_2_15_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30227"},{"key":"e_1_2_15_17_1","doi-asserted-by":"publisher","DOI":"10.1177\/0192623317728134"},{"key":"e_1_2_15_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.266"},{"key":"e_1_2_15_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2012.07.004"},{"key":"e_1_2_15_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90627-3"},{"key":"e_1_2_15_21_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.189076"},{"key":"e_1_2_15_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2018.03.007"},{"key":"e_1_2_15_23_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00706"},{"key":"e_1_2_15_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.377"},{"key":"e_1_2_15_25_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0336"},{"key":"e_1_2_15_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1914167117"},{"key":"e_1_2_15_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517713688"},{"key":"e_1_2_15_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.09.2011.4774"},{"key":"e_1_2_15_29_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.758203"},{"key":"e_1_2_15_30_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21051587"},{"key":"e_1_2_15_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/joa.12825"},{"key":"e_1_2_15_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/icb\/icaa053"},{"key":"e_1_2_15_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31336"},{"issue":"3","key":"e_1_2_15_34_1","first-page":"473","article-title":"Chondroectodermal syndrome","volume":"30","author":"Jan A. U.","year":"2018","journal-title":"Journal of Ayub Medical College, Abbottabad"},{"key":"e_1_2_15_35_1","doi-asserted-by":"publisher","DOI":"10.4103\/0975-7406.100257"},{"key":"e_1_2_15_36_1","doi-asserted-by":"publisher","DOI":"10.4103\/0973-029x.110716"},{"key":"e_1_2_15_37_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E20-08-0556"},{"key":"e_1_2_15_38_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.166892"},{"key":"e_1_2_15_39_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2018.01484"},{"key":"e_1_2_15_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.23692"},{"key":"e_1_2_15_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-67518-0"},{"key":"e_1_2_15_42_1","doi-asserted-by":"publisher","DOI":"10.1159\/000342833"},{"key":"e_1_2_15_43_1","doi-asserted-by":"publisher","DOI":"10.23804\/ejpd.2019.20.04.09"},{"key":"e_1_2_15_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.04.010"},{"key":"e_1_2_15_45_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517741283"},{"key":"e_1_2_15_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsb.2020.107614"},{"key":"e_1_2_15_47_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.130187"},{"key":"e_1_2_15_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neo.2020.12.002"},{"key":"e_1_2_15_49_1","doi-asserted-by":"publisher","DOI":"10.3390\/jdb8040025"},{"key":"e_1_2_15_50_1","volume-title":"StatPearls [Internet]","author":"Miles B.","year":"2022"},{"key":"e_1_2_15_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gep.2019.119062"},{"key":"e_1_2_15_52_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034512471826"},{"key":"e_1_2_15_53_1","doi-asserted-by":"publisher","DOI":"10.1155\/2018\/8631602"},{"issue":"5","key":"e_1_2_15_54_1","first-page":"501","article-title":"Ellis\u2013van Creveld with an unusual dental anomaly: A case report","volume":"42","author":"Nethan S. T.","year":"2017","journal-title":"Iranian Journal of Medical Sciences"},{"key":"e_1_2_15_55_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12291"},{"key":"e_1_2_15_56_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13128"},{"key":"e_1_2_15_57_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21186665"},{"key":"e_1_2_15_58_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx335"},{"key":"e_1_2_15_59_1","doi-asserted-by":"publisher","DOI":"10.4317\/jced.55543"},{"key":"e_1_2_15_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.02.030"},{"key":"e_1_2_15_61_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2020.00753"},{"key":"e_1_2_15_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_15_63_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.007542"},{"key":"e_1_2_15_64_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30226"},{"key":"e_1_2_15_65_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1901732116"},{"key":"e_1_2_15_66_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.01103"},{"key":"e_1_2_15_67_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a028258"},{"key":"e_1_2_15_68_1","doi-asserted-by":"publisher","DOI":"10.3390\/jdb5020006"},{"key":"e_1_2_15_69_1","doi-asserted-by":"publisher","DOI":"10.4103\/2156-7514.95432"},{"key":"e_1_2_15_70_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.622822"},{"key":"e_1_2_15_71_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2019.05.002"},{"key":"e_1_2_15_72_1","doi-asserted-by":"publisher","DOI":"10.1111\/cpr.12765"},{"key":"e_1_2_15_73_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2017.00014"},{"key":"e_1_2_15_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2016.04.025"},{"key":"e_1_2_15_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2020.08.032"},{"key":"e_1_2_15_76_1","doi-asserted-by":"publisher","DOI":"10.5624\/isd.2011.41.4.167"},{"key":"e_1_2_15_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2020.05.021"},{"key":"e_1_2_15_78_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2018.00008"},{"key":"e_1_2_15_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2016.02.009"},{"key":"e_1_2_15_80_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.08.031"},{"key":"e_1_2_15_81_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034516683674"},{"key":"e_1_2_15_82_1","doi-asserted-by":"publisher","DOI":"10.1128\/mcb.00421\u201016"},{"key":"e_1_2_15_83_1","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2020105781"},{"key":"e_1_2_15_84_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2017.04.009"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31969","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31969","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31969","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T20:51:20Z","timestamp":1692996680000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31969"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":83,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/ajmg.c.31969"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31969","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3]]},"assertion":[{"value":"2022-02-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}