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Article

Determination of the molecular basis of Marfan syndrome: a growth industry.

The Journal of clinical investigation - 1 Jul 2004

Byers Peter H

Abstract excerpt

Although it has been known for more than a decade that Marfan syndrome - a dominantly inherited connective tissue disorder characterized by tall stature, arachnodactyly, lens subluxation, and a high risk of aortic aneurysm and dissection - results from mutations in the FBN1 gene, which encodes fibrillin-1, the precise mechanism by which the pleiotropic phenotype is produced has been unclear. A report in this...

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Source

Open in PubMed Open full text

Identifiers

PMID: 15254580
DOI: 10.1172/JCI22399
PMCID: PMC449756

Genes

FBN1

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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