Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Ana...
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Background
Marfan syndrome (MFS) is a clinically heterogeneous hereditary connective tissue disorder. Severe cardiovascular manifestations (i.e., aortic aneurysm and dissection) are the most life‐threatening complications. Most of the cases are caused by mutations, a minor group of which are copy number variations (CNV), in the FBN1 gene.
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Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature
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TN_cdi_doaj_primary_oai_doaj_org_article_7ce16cd1cc9e49f5ba2ae7f3306333a8
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_7ce16cd1cc9e49f5ba2ae7f3306333a8
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.2166
