Genotype–phenotype correlations in Marfan syndrome
Genotype–phenotype correlations in Marfan syndrome
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Author / Creator
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group LTD
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Scope and Contents
Contents
[...]mutations in FBN1 lead to deleterious biomechanical effects and aberrant signalling pathway activation within the aorta and other affected tissues. [...]morphological and haemodynamic factors, such as bicuspid aortic valve and aortic regurgitation, should be considered, if available, when assessing factors that control TAA progression. Precisi...
Alternative Titles
Full title
Genotype–phenotype correlations in Marfan syndrome
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_1908431826
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1908431826
Other Identifiers
ISSN
1355-6037
E-ISSN
1468-201X
DOI
10.1136/heartjnl-2017-311513