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Article

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

Human mutation - 1 Apr 2016

Amirav Israel, Wallmeier Julia, Loges Niki T, Menchen Tabea, Pennekamp Petra, Mussaffi Huda, Abitbul Revital, Avital Avraham, Bentur Lea, Dougherty Gerard W, Nael Elias, Lavie Moran, Olbrich Heike, Werner Claudius, Kintner Chris, Omran Heymut

Abstract excerpt

Reduced generation of multiple motile cilia (RGMC) is a novel chronic destructive airway disease within the group of mucociliary clearance disorders with only few cases reported. Mutations in two genes, CCNO and MCIDAS, have been identified as a cause of this disease, both leading to a greatly reduced number of cilia and causing impaired mucociliary clearance. This study was designed to identify the prevalence of...

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Source

Identifiers

PMID: 26777464
DOI: 10.1002/humu.22957

Genes

CCNO
MCIDAS

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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Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.PMID 26777464Read ↗

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