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[Primary ciliary dyskinesia associated with a novel DNAH11 genetic variant: a case report].

Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases - 12 Sept 2024

Deng K L, Shi L, Wang X L, Chen X L

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder associated with abnormalities in ciliary structure and function. Here, we report A 22-year-old non-smoking Chinese man with recurrent episodes of respiratory tract infections and sinusitis since high school period. The diagnosis is more complicated by the atypical symptoms and the late age of onset. We summarized the clinical characteristics of...

Topics

Humans
Male
Young Adult
Axonemal Dyneins
Mutation
Respiratory Tract Infections
Sinusitis
Ciliary Motility Disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39266483
DOI: 10.3760/cma.j.cn112147-20240201-00066

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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