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Article

Genotype-phenotype correlations of primary ciliary dyskinesia result from mutations in CCNO

2024-12-03

Abstract excerpt

<h4>Background: </h4> Primary ciliary dyskinesia (PCD) due to CCNO mutations is frequently associated with more severe clinical phenotypes. This study reports our experience with three patients and reviews global characteristics of CCNO -related cases, providing insights for early diagnosis. <h4>Methods: </h4>: We conducted a retrospective analysis of PCD patients with CCNO mutations and reviewed genotype-phen...

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Literature Corpus work
33b963d0-67c7-5e4c-9988-41a9f3e7ff12
DOI
10.22541/au.173325129.95687153/v1
Open publication

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