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Article

[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2018

Wang K, Chen X, Guo C Y, Liu F Q, Wang J R, Sun L F

Abstract excerpt

Objective: To analyze the clinical manifestations, cilia ultrastructure and gene variations of primary ciliary dyskinesia (PCD). Methods: Analysis of three cases diagnosed as PCD by transmission electron microscopy of the endobronchial biopsy material in Division of Pediatric Pulmonology of Shandong Provincial Hospital between 2013 and 2016. Target gene sequence capture and next generation sequencing were used to...

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Source

Identifiers

PMID: 29429202
DOI: 10.3760/cma.j.issn.0578-1310.2018.02.012

Genes

CCDC39
CCDC40
DNAH5
HYDIN
CCNO
DNAH11
DNAI1

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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