Loss‐of‐function mutations in CCDC114 cause primary ciliary dyskinesia

Abstract

Splice‐site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaOnoufriadis et al. (2013)American Journal of Human Genetics 92:88–98.Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesiaKnowles et al. (2013)American Journal of Human Genetics 92:99–106.