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Article

ABCA3 mutations in adult pulmonary fibrosis patients: a case series and review of literature.

Current opinion in pulmonary medicine - 1 May 2020

Klay Dymph, Platenburg Mark G J P, van Rijswijk Rein H N A J, Grutters Jan C, van Moorsel Coline H M

Abstract excerpt

PURPOSE OF REVIEW: The current review aims to recognize the variability in clinical presentation of adult patients with bi-allelic ABCA3 mutations, create more depth in ABCA3 mutations reported and highlight the influence of environmental factors on disease course. RECENT FINDINGS: Mutations in ABCA3 are predominantly linked to neonatal and pediatric interstitial lung disease (ILD) with a minority surviving...

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Identifiers

PMID: 32238781
DOI: 10.1097/MCP.0000000000000680

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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