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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Detalhes bibliográficos
Main Authors: Leigh, Margaret W., O'Callaghan, Christopher, Knowles, Michael R.
Formato: Artigo
Idioma:Inglês
Publicado em: American Thoracic Society 2011
Assuntos:
Primary Ciliary Dyskinesia and Overlapping Syndromes
Acesso em linha: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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