Kartagener syndrome
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Kartagener syndrome is a type of primary ciliary dyskinesia associated with situs inversus totalis (mirror-image reversal of all visceral organs with no apparent physiologic consequence).[3] Kartagener syndrome is inherited in an autosomal recessive fashion and is characterized by the triad of situs inversus, bronchiectasis and sinusitis.[4] About 50% of individuals with primary ciliary dyskinesia have Kartagener syndrome.[1][2]
References
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Primary Ciliary Dyskinesia. American Lung Association. May 2003 Available at: http://www.lungusa.org/site/apps/nlnet/content3.aspx?c=dvLUK9O0E&b=2060321&content_id={480D5BF6-41F2-49C3-ADD4-D42666135FEE}¬oc=1. Accessed October 13, 2008.
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Kartagener's Syndrome. Kartagener's Syndrome and Primary Ciliary Dyskinesia Foundation. Available at: http://www.kartagener-syndrom.org/html_english/erkrankung_definition.html. Accessed October 13, 2008.
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Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews. February 1, 2008 Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pcd. Accessed October 13, 2008.
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Casanova MS, Tuji FM, Yoo HJ, Haiter-Neto F. . Dentomaxillofac Radiol. September 2006;:. Available at: http://www.ncbi.nlm.nih.gov/pubmed/16940490. October 13, 2008.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Kartagener syndrome. Click on the link to go to OMIM and review these resources.
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PubMed lists journal articles that discuss Kartagener syndrome. Click on the link to go to PubMed and review citations to these articles.
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ClinicalTrials.gov lists trials that are studying or have studied Kartagener syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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The Genetic Disorders Of Mucociliary Clearance Consortium is a network of four U.S. centers (University of North Carolina at Chapel Hill, Washington University in St. Louis, University of Washington, and University of Colorado) that are collaborating in the diagnostic testing, genetic studies, and clinical trials in patients with impairments in mucociliary clearance, focusing on primary ciliary dyskinesia, cystic fibrosis, and pseudohypoaldosteronism. Ultimately, this group hopes to better define the clinical pathogenesis of these important airway diseases, improve or expand diagnostic testing, and develop new and effective treatments. To read more about this consortium and their involvement with primary ciliary dyskinesia and Kartagener syndrome, click on the above link.
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