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Article

Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations.

Archives of disease in childhood - 18 Apr 2024

Gatt Dvir, Golan Tripto Inbal, Levanon Eran, Arwas Noga, Hazan Guy, Alkrinawi Soliman, Goldbart Aviv D, Aviram Micha

Abstract excerpt

BACKGROUND: The American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia (PCD) consider the presence of a bi-allelic pathogenic variant confirmatory for the diagnosis of PCD, with genetic testing recommended when other confirmatory diagnostic tests are less accessible. We present our experience with genetic testing as first line with a proposed algorithm for high consanguinity...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38296613
DOI: 10.1136/archdischild-2023-325921

Genes

DNAAF3
DNAAF5
DNAL1
ZMYND10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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