Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.
Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S.
Kott E, et al. Among authors: vojtek am.
Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29.
Am J Hum Genet. 2013.
PMID: 23993197
Free PMC article.