The Challenges of Diagnosing Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder of ciliary structure and function. The diagnosis can be challenging, particularly when using nongenetic assays. The “gold standard” diagnostic test is ultrastructural analysis of respiratory cilia obtained by nasal scrape or brush biopsy. A...

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Bibliographic Details
Main Authors: Leigh, Margaret W., O'Callaghan, Christopher, Knowles, Michael R.
Format: Artigo
Language:Inglês
Published: American Thoracic Society 2011
Subjects:
Primary Ciliary Dyskinesia and Overlapping Syndromes
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3209576/
https://ncbi.nlm.nih.gov/pubmed/21926395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1513/pats.201103-028SD
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