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Genotype–phenotype correlations in Marfan syndrome

Genotype–phenotype correlations in Marfan syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1908431826

Genotype–phenotype correlations in Marfan syndrome

About this item

Full title

Genotype–phenotype correlations in Marfan syndrome

Publisher

England: BMJ Publishing Group LTD

Journal title

Heart (British Cardiac Society), 2017-11, Vol.103 (22), p.1750-1752

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group LTD

More information

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

Identifiers

Primary Identifiers

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

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