Article

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis Marfan syndrome

2022-10-11

Abstract excerpt

<title>Abstract</title> <p>Marfan syndrome is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by mutations in the <italic>FBN1</italic> gene. To explore causes of Marfan syndrome and the prevalence in Iceland we collected samples and information from all living individuals with a clinical diagnosis of Marfan syndrome in Iceland (n = 35)...

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Literature Corpus work: d3230dc2-2d8d-575c-a9a4-df4634a7b87e
DOI: 10.21203/rs.3.rs-2085746/v1

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