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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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書目詳細資料
Main Authors: Leigh, Margaret W., O'Callaghan, Christopher, Knowles, Michael R.
格式: Artigo
語言:Inglês
出版: American Thoracic Society 2011
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在線閱讀: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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