ArticleSarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG2024
Case of familial interstitial lung disease attributed to ATP-binding cassette transporter 3 gene mutation in identical twins.
Article in Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Genetic susceptibility to interstitial lung disease: a case ofQuantitative imaging in medicine and surgery · 2025Article
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in ABCA3 can result in surfactant deficiency, leading to respiratory distress syndrome in term neonates, and interstitial lung disease (ILD) in children. Here, we report an extremely rare case of ILD in an identical twin with novel ABCA3 germline mutations. Interestingly, they showed mostly similar, but slightly different, clinical features. Our cases suggest that, in addition to genetic factors, non-genetic factors are involved in the severity of the disease and its clinical course. Studies of gene-environment interactions, especially with twins, are needed, as they may contribute to the understanding of the clinical heterogeneity of ILD and its association with various underlying conditions as well as rare variant mutations.
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Registered trials
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