Condition: CILIARY DYSKINESIA, PRIMARY, 11


rs767490154 in RSPH4A gene and CILIARY DYSKINESIA, PRIMARY, 11 PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

PMID 23798057 2013 Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.