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Article

Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.

American journal of medical genetics. Part A - 1 Sept 2007

Rand-Hendriksen Svend, Tjeldhorn Lena, Lundby Rigmor, Semb Svein Ove, Offstad Jon, Andersen Kai, Geiran Odd, Paus Benedicte

Abstract excerpt

In monogenic disorders, correlation between genotype and phenotype is a premise for predicting prognosis in affected patients. Predictive genetic testing may enable prophylaxis and promote clinical follow-up. Although Marfan syndrome (MFS) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not sufficient for the diagnosis, which also depends on the...

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Identifiers

PMID: 17663468
DOI: 10.1002/ajmg.a.31759

Genes

FBN1

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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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