Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis

Abstract excerpt

Background Despite growing awareness of primary ciliary dyskinesia (PCD) in northern China, few cases have been reported in central China, the most populous region in the country. This study aimed to describe the clinical phenotype and genotype of children with PCD in central China. Methods We retrospectively recruited 15 patients with PCD from January 2018 to July 2024. The demographic data, clinical...

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