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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Autori principali: Leigh, Margaret W., O'Callaghan, Christopher, Knowles, Michael R.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Thoracic Society 2011
Soggetti:
Primary Ciliary Dyskinesia and Overlapping Syndromes
Accesso online: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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