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Article

Variation in DNAH1 may contribute to primary ciliary dyskinesia.

BMC medical genetics - 17 Mar 2015

Imtiaz Faiqa, Allam Rabab, Ramzan Khushnooda, Al-Sayed Moeenaldeen

Abstract excerpt

BACKGROUND: Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinical symptoms including recurrent respiratory infections progressing to permanent lung damage and infertility. CASE PRESENTATION: Here we describe our search to delineate the molecular basis in two affected sisters with...

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Source

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Identifiers

PMID: 25927852
DOI: 10.1186/s12881-015-0162-5
PMCID: PMC4422061

Genes

DNAH1

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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Variation in DNAH1 may contribute to primary ciliary dyskinesia.PMID 25927852Read ↗

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