Article
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity.
European journal of human genetics : EJHG - 1 Feb 2000
Blouin J L, Meeks M, Radhakrishna U, Sainsbury A, Gehring C, Saïl G D, Bartoloni L, Dombi V, O'Rawe A, Walne A, Chung E, Afzelius B A, Armengot M, Jorissen M, Schidlow D V, van Maldergem L, Walt H, Gardiner R M, Probst D, Guerne P A, Delozier-Blanchet C D, Antonarakis S E
Abstract excerpt
Primary ciliary dyskinesia (PCD), or immotile cilia syndrome (ICS), is an autosomal recessive disorder affecting ciliary movement with an incidence of 1 in 20000-30000. Dysmotility to complete immotility of cilia results in a multisystem disease of variable severity with recurrent respiratory tract infections leading to bronchiectasis and male subfertility. Ultrastructural defects are present in ciliated mucosa...
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