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Article

Marfan syndrome: new clues to genotype-phenotype correlations.

Annals of medicine - 1 Jun 1999

Ramirez F, Gayraud B, Pereira L

Abstract excerpt

Fibrillin 1 is the main constituent of extracellular microfibrils. Microfibrils can exist as individual structures or associate with elastin to form elastic fibres. Fibrillin 1 mutations are the cause of the pleiotropic manifestations of the Marfan syndrome (MFS) which principally involve the musculoskeletal, ocular and cardiovascular systems. MFS pathogenesis requires high levels of mutant fibrillin 1 molecules...

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Identifiers

PMID: 10442675
DOI: 10.3109/07853899909115979

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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