Articles with "ccno mutations" as a keyword



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Primary ciliary dyskinesia due to CCNO mutations—A genotype‐phenotype correlation contribution

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Published in 2021 at "Pediatric Pulmonology"

DOI: 10.1002/ppul.25440

Abstract: Primary ciliary dyskinesia (PCD) is genetically and clinically heterogeneous. CCNO mutations are associated with chronic destructive lung disease and were first described in 2014. Early reports suggest that CCNO is mutated more frequently than expected,… read more here.

Keywords: primary ciliary; genotype phenotype; due ccno; ciliary dyskinesia ... See more keywords