DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

@article{Loges2008DNAI2MC,
  title={DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.},
  author={Niki Tomas Loges and Heike Olbrich and Lale Fenske and Huda Mussaffi and Judit Horv{\'a}th and Manfred Fliegauf and Heiner Kuhl and Gyorgy Baktai and Erzsebet Peterffy and Rahul Chodhari and Eddie M. K. Chung and Andrew Rutman and Christopher O'callaghan and Hannah Blau and Laszlo Tiszlavicz and Katarzyna Voelkel and Michal Witt and Ewa Zietkiewicz and Juergen Neesen and Richard Reinhardt and Hannah M Mitchison and Heymut Omran},
  journal={American journal of human genetics},
  year={2008},
  volume={83 5},
  pages={547-58}
}
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic destructive airway disease and randomization of left/right body asymmetry. Males often have reduced fertility due to impaired sperm tail function. The complex PCD phenotype results from dysfunction of cilia of the airways and the embryonic node and the structurally related motile sperm flagella. This is associated with underlying ultrastructural defects that frequently involve the outer dynein arm… CONTINUE READING

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