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Article

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.

Molecular medicine reports - 1 Dec 2016

Kano Gen, Tsujii Hisashi, Takeuchi Kazuhiko, Nakatani Kaname, Ikejiri Makoto, Ogawa Satoru, Kubo Hisami, Nagao Mizuho, Fujisawa Takao

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or functional impairment of cilia throughout the whole body. Early diagnosis of PCD is important for the prevention of long‑term sequelae, however early diagnosis is a challenge due to the phenotypic heterogeneity of PCD. In the current study, the patient with PCD was diagnosed at nine years old following several efforts to...

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Identifiers

PMID: 27779714
DOI: 10.3892/mmr.2016.5871
PMCID: PMC5355724

Genes

DNAH5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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