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Article

A simple clinical model to estimate the probability of Marfan syndrome.

QJM : monthly journal of the Association of Physicians - 1 Jun 2012

Sheikhzadeh S, Kusch M L, Rybczynski M, Kade C, Keyser B, Bernhardt A M, Hillebrand M, Mir T S, Fuisting B, Robinson P N, Berger J, Lorenzen V, Schmidtke J, Blankenberg S, von Kodolitsch Y

Abstract excerpt

BACKGROUND: Marfan syndrome is a heritable connective tissue disease. Definitive diagnosis is complex, and requires sequencing of a large gene, FBN1. AIM: We aimed to develop a simple model to estimate the pre-test probability of Marfan syndrome. DESIGN: Prospective cross-sectional study. METHODS...

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Source

Identifiers

PMID: 22301820
DOI: 10.1093/qjmed/hcs008

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22301820-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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