The Emerging Genetics of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal recessive, rare, genetically heterogeneous condition characterized by oto-sino-pulmonary disease together with situs abnormalities (Kartagener syndrome) owing to abnormal ciliary structure and function. Most patients are currently diagnosed with PCD b...

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Detaylı Bibliyografya
Asıl Yazarlar: Zariwala, Maimoona A., Omran, Heymut, Ferkol, Thomas W.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Thoracic Society 2011
Konular:
Primary Ciliary Dyskinesia and Overlapping Syndromes
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3209577/
https://ncbi.nlm.nih.gov/pubmed/21926394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1513/pats.201103-023SD
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