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We describe the cases of two siblings with CF diagnosed with the rare missense mutation c.80G&gt;T, which has only been referenced once in the literature and shows a possible association with classical form of CF. \u00a0<\/jats:p>","DOI":"10.12890\/2023_003728","type":"journal-article","created":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T03:24:33Z","timestamp":1674012273000},"source":"Crossref","is-referenced-by-count":0,"title":["Classic Cystic Fibrosis Presentation in Two Middle Eastern Siblings with a rare CFTR mutation (c.80G&gt;T)"],"prefix":"10.12890","volume":"10","author":[{"given":"Sumaiya","family":"Hafiz","sequence":"first","affiliation":[{"name":"Cleveland Clinic, Abu Dhabi, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Al Qassimi","sequence":"first","affiliation":[{"name":"Cleveland Clinic, Abu Dhabi, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali Saeed","family":"Wahla","sequence":"first","affiliation":[{"name":"Cleveland Clinic, Abu Dhabi, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud","family":"El-Kaissi","sequence":"first","affiliation":[{"name":"Cleveland Clinic, Abu Dhabi, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mateen","family":"Uzbek","sequence":"first","affiliation":[{"name":"Cleveland Clinic, Abu Dhabi, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irfan","family":"Shafiq","sequence":"first","affiliation":[{"name":"Cleveland Clinic, Abu Dhabi, United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2023,2,3]]},"reference":[{"key":"10.12890\/2023_003728_ref1","doi-asserted-by":"crossref","unstructured":"<li>Davies JC, Alton EWFW, Bush A. Cystic fibrosis. <em>BMJ<\/em> 2007 Dec 15;<strong>335<\/strong>(7632):1255\u20131259. <\/li>","DOI":"10.1136\/bmj.39391.713229.AD"},{"key":"10.12890\/2023_003728_ref2","doi-asserted-by":"crossref","unstructured":"<li>Norek A, Stremska M, Sobczynska-Tomaszewska A, Wertheim-Tysarowska K, Dmenska H, Jurek M. Novel de novo large deletion in cystic fibrosis transmembrane conductance regulator gene results in a severe cystic fibrosis phenotype. <em>J Pediatr<\/em> 2011 Aug 1;<strong>159<\/strong>(2):343\u2013346.e1. <\/li>","DOI":"10.1016\/j.jpeds.2011.04.022"},{"key":"10.12890\/2023_003728_ref3","doi-asserted-by":"crossref","unstructured":"<li>Boeck KD, Zolin A, Cuppens H, Olesen HV, Viviani L. The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. <em>J Cyst Fibros<\/em> 2014 Jul 1;<strong>13<\/strong>(4):403\u2013409. <\/li>","DOI":"10.1016\/j.jcf.2013.12.003"},{"key":"10.12890\/2023_003728_ref4","unstructured":"<li>Shafiq I, Shabeer S, Uzbeck MH, Zoumot Z, Abuzakouk M, Wahla AS. Genetic and clinical demographics of adult cystic fibrosis patients in a Middle Eastern population. <em>Turk Thorac J<\/em> 2021 Jul 14;<strong>22<\/strong>(4):279\u2013283. <\/li>"},{"key":"10.12890\/2023_003728_ref5","doi-asserted-by":"crossref","unstructured":"<li>Zietkiewicz E, Rutkiewicz E, Pogorzelski A, Klimek B, Voelkel K, Witt M. CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. <em>PloS One<\/em> 2014 Feb 26;<strong>9<\/strong>(2):e89094. <\/li>","DOI":"10.1371\/journal.pone.0089094"},{"key":"10.12890\/2023_003728_ref6","doi-asserted-by":"crossref","unstructured":"<li>Panickar J, Al Nuaimi A. CF mutations in United Arab Emirates.<em> J Cyst Fibros<\/em> 2016;<strong>15<\/strong>(1):S52. <\/li>","DOI":"10.1016\/S1569-1993(16)30245-4"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3728\/3337","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3728\/3338","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3728\/3338","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,20]],"date-time":"2025-08-20T13:22:43Z","timestamp":1755696163000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/3728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,3]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.12890\/2023_003728","relation":{"has-manifestation":[{"id-type":"other","id":"1-94-3728-g3337","asserted-by":"subject"},{"id-type":"other","id":"1-94-3728-g3338","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-94","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2023,2,3]]}}}