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Article

Genetics and biology of primary ciliary dyskinesia.

Paediatric respiratory reviews - 1 Mar 2016

Horani Amjad, Ferkol Thomas W, Dutcher Susan K, Brody Steven L

Abstract excerpt

Ciliopathies are a growing class of disorders caused by abnormal ciliary axonemal structure and function. Our understanding of the complex genetic and functional phenotypes of these conditions has rapidly progressed. Primary ciliary dyskinesia (PCD) remains the sole genetic disorder of motile cilia dysfunction. However, unlike many Mendelian genetic disorders, PCD is not caused by mutations in a single gene or...

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Identifiers

PMID: 26476603
DOI: 10.1016/j.prrv.2015.09.001
PMCID: PMC4864047

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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