Condition: CILIARY DYSKINESIA, PRIMARY, 24


rs587777060 in RSPH1 gene and CILIARY DYSKINESIA, PRIMARY, 24 PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.