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Article

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.

BMC medical genomics - 23 Sept 2021

Wheway Gabrielle, Thomas N Simon, Carroll Mary, Coles Janice, Doherty Regan, Goggin Patricia, Green Ben, Harris Amanda, Hunt David, Jackson Claire L, Lord Jenny, Mennella Vito, Thompson James, Walker Woolf T, Lucas Jane S

Abstract excerpt

BACKGROUND: It is estimated that 1-13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caused by mutations in genes required for motile cilium structure or function, resulting in impaired mucociliary clearance. Symptoms appear in infancy but diagnosis is often late...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34556108
DOI: 10.1186/s12920-021-01084-w
PMCID: PMC8461892

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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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