Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 15...
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
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Publisher
New York: Elsevier Inc
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Language
English
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Publisher
New York: Elsevier Inc
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Contents
Marfan syndrome (MFS) is a connective tissue disorder in which several systems are affected with great phenotypic variability. Although known to be associated with pathogenic variants in the FBN1 gene, few genotype–phenotype correlations have been found in proband studies only.
In 1,575 consecutive MFS probands and relatives from the most compre...
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Full title
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8257477
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8257477
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ISSN
1098-3600,1530-0366
E-ISSN
1530-0366
DOI
10.1038/s41436-021-01132-x
