Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability
About this item
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Publisher
Switzerland: MDPI
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI
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Scope and Contents
Contents
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variability has not been quantified. We analyzed the distribution of 23 clinical features in 1306 well-phenotyped MFS patients carrying
mutations. We found strong c...
Alternative Titles
Full title
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7288268
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7288268
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes11050574
