[Congenital ciliary dyskinesia. Focus].

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific primary structural and/or functional abnormalities of the motile cilia. Prevalence, about 1/15,000 to 1/30,000, is probably underestimated, as diagnosis might not be evocated in absence of Kartagener syndrome. Diagnosis is confirmed in presence of abnormal ciliary motility as well as ciliary ultrastructure. Disease-causing...

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