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Article

Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.

American journal of human genetics - 1 Dec 1998

Montgomery R A, Geraghty M T, Bull E, Gelb B D, Johnson M, McIntosh I, Francomano C A, Dietz H C

Abstract excerpt

Mutations in the FBN1 gene, which encodes fibrillin-1, cause Marfan syndrome (MFS) and have been associated with a wide range of milder, overlap phenotypes. The factors that modulate phenotypic severity, both between and within families, remain to be determined. This study examines the relationship between the FBN1 genotype and phenotype in families with extremely mild phenotypes and in those that show striking...

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Source

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Identifiers

PMID: 9837823
DOI: 10.1086/302144
PMCID: PMC1377642

Genes

FBN1

Provenance

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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Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.Semantic proximity Read ↗

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The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Semantic proximity Read ↗

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