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Article

Primary Ciliary Dyskinesia with Identical Genotype but Distinct Phenotypes in Two Siblings.

The Tohoku journal of experimental medicine - 18 Sept 2024

Sato Megumi, Fujita Yuji, Imataka George, Kuwashima Shigeko, Takeuchi Kazuhiko, Yoshihara Shigemi

Abstract excerpt

In this study, we report two cases of siblings diagnosed with primary ciliary dyskinesia (PCD) sharing an identical genotype yet exhibiting distinct phenotypes. A 13-year-old girl with acute pneumonia was admitted to our hospital. Chest and sinus radiography revealed situs inversus and bilateral maxillary sinusitis. Chest computed tomography revealed bronchiectasis. Her 6-year-old brother with acute bronchitis...

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Identifiers

PMID: 38811211
DOI: 10.1620/tjem.2024.J035

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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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