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Genetics of Kartagener's syndrome.
"Primary ciliary dyskinesia" is a group of various genetic diseases. A common property is various axonemal defects leading to ciliary dysfunction, which causes the typical clinical picture. Situs inversus occurs as a facultative symptom in half the cases. This combination is known as "Kartagener's syndrome", thus being a characteristic combination of symptoms, but no nosologic entity. Autosomal recessive inheritance has been proven in primary ciliary dyskinesia, but dominant new mutations can not as yet be excluded for sporadic cases.
PMID: 6604643 [PubMed - indexed for MEDLINE]
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Cited by 5 PubMed Central articles
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Living with primary ciliary dyskinesia: a prospective qualitative study of knowledge sharing, symptom concealment, embarrassment, mistrust, and stigma.
Whalley S, McManus IC.
BMC Pulm Med. 2006 Oct 13; 6:25. Epub 2006 Oct 13.
[BMC Pulm Med. 2006]
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Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact.
McManus IC, Mitchison HM, Chung EM, Stubbings GF, Martin N.
BMC Pulm Med. 2003 Nov 27; 3:4. Epub 2003 Nov 27.
[BMC Pulm Med. 2003]
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Late presentation of Kartagener's syndrome. Consequences of ciliary dysfunction.
Perraudeau M, Scott J, Walport M, Oakley C, Bloom S, Brooks D.
BMJ. 1994 Feb 19; 308(6927):519-21.
[BMJ. 1994]
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