{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T06:22:37Z","timestamp":1767766957966,"version":"3.48.0"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T00:00:00Z","timestamp":1767657600000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Primary ciliary dyskinesia (PCD) is a rare and heterogeneous inherited disease characterized by impaired mucociliary clearance. Patients with PCD typically present with recurrent respiratory infections resulting in the development of bronchiectasis. Even though awareness of the disease has increased over the years, PCD remains underdiagnosed. We here present a case of a newly diagnosed middle\u2010aged female found to have a previously undescribed variant of the disease\u2010associated\n                    <jats:italic>DNAAF3<\/jats:italic>\n                    gene.\n                  <\/jats:p>","DOI":"10.1155\/crig\/5137651","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T06:18:48Z","timestamp":1767766728000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of a Novel\n                    <i>DNAAF3<\/i>\n                    Variant in a 54\u2010Year\u2010Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8356-9096","authenticated-orcid":false,"given":"Mirja M.","family":"Wirtz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Ebner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Pleyers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalie","family":"Firlei-Fleischmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Untersteiner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Studnicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2023.104171"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2019-317687"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.anorl.2017.04.001"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00001010"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1106"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-023-06045-0"},{"key":"e_1_2_8_7_2","volume-title":"National Center for Biotechnology Information","year":"2025"},{"key":"e_1_2_8_8_2","volume-title":"Online Mendelian Inheritance in Man, OMIM","year":"2024"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.3928\/19382359-20220119-01"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00453-7"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/5137651","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T06:18:49Z","timestamp":1767766729000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/5137651"}},"subtitle":[],"editor":[{"given":"Irfan","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/5137651"],"URL":"https:\/\/doi.org\/10.1155\/crig\/5137651","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-08-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"5137651"}}