The emerging genetics of primary ciliary dyskinesia.

  title={The emerging genetics of primary ciliary dyskinesia.},
  author={Maimoona A Zariwala and Heymut Omran and Thomas Ferkol},
  journal={Proceedings of the American Thoracic Society},
  volume={8 5},
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 variability in the clinical phenotype and ciliary ultrastructural changes. Some patients… CONTINUE READING
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