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Article

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

Human molecular genetics - 15 Sept 2003

Hutchinson Sarah, Furger Andre, Halliday Dorothy, Judge Daniel P, Jefferson Andrew, Dietz Harry C, Firth Helen, Handford Penny A

Abstract excerpt

FBN1 mutations cause Marfan syndrome (MFS), an autosomal dominant disorder of connective tissue. One of the unexplained features of MFS is the pathogenic mechanism that leads to marked inter- and intra-familial clinical variability, despite complete disease penetrance. An FBN1 deletion patient [4...

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Source

Identifiers

PMID: 12915484
DOI: 10.1093/hmg/ddg241

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12915484-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?PMID 12915484Read ↗

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