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Article

CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.

The clinical respiratory journal - 1 Sept 2016

Sui Weiguo, Hou Xianliang, Che Wenti, Ou Minglin, Sun Guoping, Huang Shengxing, Liu Fuhua, Chen Peng, Wei Xiaolian, Dai Yong

Abstract excerpt

BACKGROUND AND AIMS: Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder. Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, situs inversus and, frequently, male infertility in PCD. To date, although several genes have been implicated in PCD, the genetic bases of most cases of PCD remain elusive. METHODS: By applying a whole-exome...

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Source

Identifiers

PMID: 25619595
DOI: 10.1111/crj.12268

Genes

CCDC40

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.PMID 25619595Read ↗

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Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.Semantic proximity Read ↗

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