primary ciliary dyskinesia

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A disorder (immotile cilia syndrome) in which ciliary function is abnormal as a result of mutations in various different genes including several for axonemal dynein components and the gene for thioredoxin domain-containing protein-3, which has a role in the axoneme. The consequence can be Kartagener's syndrome and situs inversus but there is also association with retinitis pigmentosa.

Subjects: Medicine and Health.

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