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Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.

Cells - 18 Nov 2023

Staar Ben O, Hegermann Jan, Auber Bernd, Ewen Raphael, von Hardenberg Sandra, Olmer Ruth, Pink Isabell, Rademacher Jessica, Wetzke Martin, Ringshausen Felix C

Abstract excerpt

Whole-exome sequencing has expedited the diagnostic work-up of primary ciliary dyskinesia (PCD), when used in addition to clinical phenotype and nasal nitric oxide. However, it reveals variants of uncertain significance (VUS) in established PCD genes or (likely) pathogenic variants in genes of uncertain significance in approximately 30% of tested individuals. We aimed to assess genotype-phenotype correlations in...

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Identifiers

PMID: 37998386
DOI: 10.3390/cells12222651
PMCID: PMC10670349

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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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