RPGR mutations might cause reduced orientation of respiratory cilia
Pediatric Pulmonology, 08/16/2012
Bukowy–Bieryllo Z et al. – The authors confirm that defects in the RPGR protein may contribute to syndromic primary ciliary dyskinesia (PCD). Lack of ultrastructural defects in respiratory cilia of the probands, the reduced ciliary orientation and the decreased coordination of the ciliary bundles observed in the Polish patient suggested that the RPGR protein may play a role in the establishment of the proper respiratory cilia orientation.