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Article

[Genotypic characterization of a Portuguese population of Marfan syndrome patients].

Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology - 1 Jul 2011

Lebreiro Ana, Martins Elisabete, Cruz Cristina, Almeida Jorge, Pimenta Sofia, Bernardes Miguel, Carlos Machado José, Júlia Maciel M, Abreu-Lima Cassiano

Abstract excerpt

INTRODUCTION: The diagnosis of Marfan syndrome (MFS) depends on a multidisciplinary clinical evaluation. Molecular study to identify mutations in the FBN1 gene can establish a definitive diagnosis even with atypical or «incomplete» phenotypes and enable earlier diagnosis in asymptomatic patients. OBJECTIVES: The aim of the present work was to evaluate the frequency and type of FBN1 gene mutations in a population...

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Identifiers

PMID: 22005308
DOI: 10.1016/S0870-2551(11)70003-8

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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