Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause primary ciliary dyskinesia.
Hjeij R, Aprea I, Poeta M, Nöthe-Menchen T, Bracht D, Raidt J, Honecker BI, Dougherty GW, Olbrich H, Schwartz O, et al. Genet Med. 2023 May; 25(5):100798. Epub 2023 Jan 31.