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Article

Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia.

BMJ case reports - 12 Sept 2018

Ghandourah Hasan, Dell Sharon D

Abstract excerpt

Primary ciliary dyskinesia (PCD) can manifest in the neonatal period with severe respiratory distress. We describe a child with PCD who presented at term with severe neonatal respiratory distress, persistent right upper lobe collapse and failure to thrive who underwent lobectomy prior to the diagnosis of PCD at the age of 3 years. This case report illustrates the severe spectrum of lung disease associated with...

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Identifiers

PMID: 30209139
DOI: 10.1136/bcr-2018-224964
PMCID: PMC6144183

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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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