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Scholarly Works (1 results)

Article
Peer Reviewed

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Moore, Anthony;
Onoufriadis, A;
Shoemark, A;
Munye, MM;
James, CT;
Schmidts, M;
Patel, M;
Rosser, EM;
Bacchelli, C;
Beales, PL;
Scambler, PJ

UC San Francisco Previously Published Works (2014)

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and