Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately 50% of cases. The estimated incidence of PCD is approximately 1 per 15,000 births, but the prevalence of PCD is d...

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Hlavní autoři: Knowles, Michael R., Daniels, Leigh Anne, Davis, Stephanie D., Zariwala, Maimoona A., Leigh, Margaret W.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Thoracic Society 2013
Témata:
Concise Clinical Review
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3826280/
https://ncbi.nlm.nih.gov/pubmed/23796196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1164/rccm.201301-0059CI
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