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2004 | 45 | 3 | 347-361
Article title

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions

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EN
Abstracts
EN
Primary ciliary dyskinesia (PCD) is a multisystem disease characterized by recurrent respiratory tract infections, sinusitis, bronchiectasis and male subfertility, associated in about 50% patients with situs inversus totalis (the Kartagener syndrome). The disease phenotype is caused by ultrastructural defects of respiratory cilia and sperm tails. PCD is a heterogenetic disorder, usually inherited as an autosomal recessive trait. So far, mutations in two human genes have been proved to cause the disease. However, the pathogenetics of most PCD cases remains unsolved. In this review, the disease pathomechanism is discussed along with the genes that are or may be involved in the pathogenesis of primary ciliary dyskinesia and the Kartagener syndrome.
Discipline
Year
Volume
45
Issue
3
Pages
347-361
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Document Type
REVIEW
Publication order reference
M Geremek, Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479 Poznan, Poland
YADDA identifier
bwmeta1.element.element-from-psjc-40197633-b9f4-3d21-8264-070cb17525c5
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