Genotypic characterization of a Portuguese population of Marfan syndrome patients
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. Ob...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2011-07-01
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| Series: | Revista Portuguesa de Cardiologia (English Edition) |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2174204911700034 |