Article
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.
American journal of respiratory and critical care medicine - 15 Oct 2013
Knowles Michael R, Daniels Leigh Anne, Davis Stephanie D, Zariwala Maimoona A, Leigh Margaret W
Abstract excerpt
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 difficult to determine, primarily because of limitations in diagnostic methods that focus on testing ciliary...
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