Article
The emerging genetics of primary ciliary dyskinesia.
Proceedings of the American Thoracic Society - 1 Sept 2011
Zariwala Maimoona A, Omran Heymut, Ferkol Thomas W
Abstract excerpt
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 based on the presence of defective ciliary ultrastructure. However, diagnosis often remains challenging due to...
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