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Research over the past twenty years has revealed variability in clinical presentations, ranging from mild to more severe phenotypes. Genotype and phenotype relationships have emerged. The increasing availability of genetic panels for PCD continue to redefine these genotype-phenotype relationships and reveal milder forms of disease that had previously gone unrecognized.<\/jats:p>","DOI":"10.3390\/ijms22158272","type":"journal-article","created":{"date-parts":[[2021,8,1]],"date-time":"2021-08-01T21:51:07Z","timestamp":1627854667000},"page":"8272","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9445-8148","authenticated-orcid":false,"given":"Steven K","family":"Brennan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Campus Box 8116, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W","family":"Ferkol","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Allergy and Pulmonary Medicine, Campus Box 8116, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie D","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of North Carolina School of Medicine, 101 Manning Drive, Chapel Hill, NC 27514, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/path.4843","article-title":"Motile and non-motile cilia in human pathology: From function to phenotypes","volume":"241","author":"Mitchison","year":"2017","journal-title":"J. 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