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Article

Primary ciliary dyskinesia phenotypes and correlation with genotype.

Current opinion in pulmonary medicine - 1 Nov 2025

Horani Amjad, Wee Wallace, Omran Heymut, Ferkol Thomas

Abstract excerpt

PURPOSE OF REVIEW: Primary ciliary dyskinesia is a rare, inherited disease, and over 60 genes have been linked to motile ciliopathies. During the past quarter century, our understanding of the complex genetics and biological function of motile cilia has greatly advanced. RECENT FINDINGS: Our growing knowledge of genetics and pathophysiology of primary ciliary dyskinesia has yielded insights into novel clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40948093
DOI: 10.1097/MCP.0000000000001212
PMCID: PMC12646140

Genes

CCDC39
CCDC40
CCNO
RSPH1
TUBB4B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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