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Article

The role of genetic testing in Marfan syndrome.

Current opinion in cardiology - 1 May 2024

Monda Emanuele, Caiazza Martina, Limongelli Giuseppe

Abstract excerpt

PURPOSE OF REVIEW: This review aims to delineate the genetic basis of Marfan syndrome (MFS) and underscore the pivotal role of genetic testing in the diagnosis, differential diagnosis, genotype-phenotype correlations, and overall disease management. RECENT FINDINGS: The identification of pathogenic or likely pathogenic variants in the FBN1 gene, associated with specific clinical features such as aortic root...

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Identifiers

PMID: 38386349
DOI: 10.1097/HCO.0000000000001126

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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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