{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T02:26:09Z","timestamp":1791167169113,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,3,12]],"date-time":"2017-03-12T00:00:00Z","timestamp":1489276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Respiratory J"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is included in a group of syndromic skeletal ciliopathies associated with mutations in genes encoding proteins involved in the formation or function of motile cilia. Herein, we report a 6\u2010mo\u2010old male admitted to hospital with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; <jats:italic>DYNC2H1<\/jats:italic> mutation was detected via genetic analysis and ciliary dysfunction was noted via high\u2010speed video microscopy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/crj.12620","type":"journal-article","created":{"date-parts":[[2017,3,3]],"date-time":"2017-03-03T23:56:41Z","timestamp":1488585401000},"page":"1017-1020","source":"Crossref","is-referenced-by-count":15,"title":["<i>DYNC2H1<\/i> mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy"],"prefix":"10.1111","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1405-8401","authenticated-orcid":false,"given":"Nagehan","family":"Emiralioglu","sequence":"first","affiliation":[{"name":"Department of Pediatric Pulmonology Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wallmeier","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Muenster Muenster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Olbrich","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Muenster Muenster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital Muenster Muenster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugur","family":"Ozcelik","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology Hacettepe University School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-0991-3"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101282"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1731-7"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2038"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.016"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101284"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.015"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.08.012"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.756"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02732"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.2007.066159"}],"container-title":["The Clinical Respiratory Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcrj.12620","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/crj.12620","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T21:15:17Z","timestamp":1695503717000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/crj.12620"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,12]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["10.1111\/crj.12620"],"URL":"https:\/\/doi.org\/10.1111\/crj.12620","archive":["Portico"],"relation":{},"ISSN":["1752-6981","1752-699X"],"issn-type":[{"value":"1752-6981","type":"print"},{"value":"1752-699X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,12]]}}}