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Article

Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.

European journal of pediatrics - 1 Aug 2024

Arwas Noga, Gatt Dvir, Aviram Micha, Abramsky Ramy, Hazan Guy, Goldbart Aviv, Amirav Israel, Golan-Tripto Inbal

Abstract excerpt

Though PCD usually presents after birth in term neonates, diagnosing PCD during the neonatal and infancy stages is uncommon, particularly in children who do not exhibit laterality defects. We report our recent experience with the diagnosis of PCD in the neonatal and early infantile period in a highly consanguine population. This was achieved by implementing a novel genetic-based diagnostic approach based on...

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Identifiers

PMID: 38679661
DOI: 10.1007/s00431-024-05574-8

Genes

DNAAF3
DNAAF5
DNAH1
DNAL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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