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Article

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

Clinical genetics - 1 Sept 2007

De Backer J, Loeys B, Leroy B, Coucke P, Dietz H, De Paepe A

Abstract excerpt

The diagnosis of Marfan syndrome may be hampered by the existence of very mild and atypical cases as well as by marked intrafamilial variability. In these instances, molecular analysis of the fibrillin-1 gene (FBN1) can be helpful to identify individuals at risk. The underlying molecular mechanism for the clinical variability is presently unknown. We performed clinical and molecular studies in 36 subjects from...

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Source

Identifiers

PMID: 17718856
DOI: 10.1111/j.1399-0004.2007.00845.x

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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