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Phenotypic Variability in Marfan Syndrome in a Family With a Novel Nonsense FBN1 Gene Mutation

✍ Scribed by Aránzazu Díaz de Bustamante; Eva Ruiz-Casares; M. Teresa Darnaude; Teresa Perucho; Gabriel Martínez-Quesada


Book ID
118499533
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
208 KB
Volume
65
Category
Article
ISSN
1885-5857

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Marfan Syndrome (MfS) is an autosomal dominant inherited connective tissue disorder with variable phenotypic expression of cardiovascular, skeletal and ocular manifestations. Cardiovascular complications, such as aortic aneurysm and dissection drastically reduce life expectancy of individuals with M