GeneticsPLoS GeneticsPeer-reviewed
Mutation of CFAP57 causes primary ciliary dyskinesia by disrupting theasymmetric targeting of a subset of ciliary inner dynein arms
Ximena Minerva Bustamante-Marin, Amjad Horani, Mihaela Stoyanova…·Susan K. Dutcher
This study identifies mutations in CFAP57 as a cause of primary ciliary dyskinesia by showing they disrupt asymmetric inner dynein arm assembly in cilia.