Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L.
Schwabe GC, et al.
Hum Mutat. 2008 Feb;29(2):289-98. doi: 10.1002/humu.20656.
Hum Mutat. 2008.
PMID: 18022865