Article
The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.
Annals of the American Thoracic Society - 1 Mar 2014
Kim Raymond H, A Hall David, Cutz Ernest, Knowles Michael R, Nelligan Kathleen A, Nykamp Keith, Zariwala Maimoona A, Dell Sharon D
Abstract excerpt
RATIONALE: Primary ciliary dyskinesia (PCD) is an autosomal recessive genetic disorder of motile cilia. The diagnosis of PCD has previously relied on ciliary analysis with transmission electron microscopy or video microscopy. However, patients with PCD may have normal ultrastructural appearance, and ciliary analysis has limited accessibility. Alternatively, PCD can be diagnosed by demonstrating biallelic...
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