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Article

Lung disease associated with filamin A gene mutation: a case report.

Journal of medical case reports - 18 Apr 2016

Eltahir Safa, Ahmad Khalid S, Al-Balawi Mohammed M, Bukhamsien Hussien, Al-Mobaireek Khalid, Alotaibi Wadha, Al-Shamrani Abdullah

Abstract excerpt

BACKGROUND: Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease...

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Source

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Identifiers

PMID: 27091362
DOI: 10.1186/s13256-016-0871-1
PMCID: PMC4836084

Genes

FLNA

Variants

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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