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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Bibliografske podrobnosti
Main Authors: Leigh, Margaret W., O'Callaghan, Christopher, Knowles, Michael R.
Format: Artigo
Jezik:Inglês
Izdano: American Thoracic Society 2011
Teme:
Primary Ciliary Dyskinesia and Overlapping Syndromes
Online dostop: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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