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Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan.

Internal medicine (Tokyo, Japan) - 15 Oct 2024

Ito Masashi, Morimoto Kozo, Saotome Mikio, Miyabayashi Akiko, Wakabayashi Keiko, Yamada Hiroyuki, Hijikata Minako, Keicho Naoto, Ohta Ken

Abstract excerpt

We present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected...

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Identifiers

PMID: 38432987
DOI: 10.2169/internalmedicine.3263-23
PMCID: PMC11557207

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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