Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
About this item
Full title
Author / Creator
Aubart, Melodie , Gazal, Steven , Arnaud, Pauline , Benarroch, Louise , Gross, Marie-Sylvie , Buratti, Julien , Boland, Anne , Meyer, Vincent , Zouali, Habib , Hanna, Nadine , Milleron, Olivier , Stheneur, Chantal , Bourgeron, Thomas , Desguerre, Isabelle , Jacob, Marie-Paule , Gouya, Laurent , Génin, Emmanuelle , Deleuze, Jean-François , Jondeau, Guillaume and Boileau, Catherine
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder related to variants in the FBN1 gene. Prognosis is related to aortic risk of dissection following aneurysm. MFS clinical variability is notable, for age of onset as well as severity and number of clinical manifestations. To identify genetic modifiers, we combined genome-w...
Alternative Titles
Full title
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Authors, Artists and Contributors
Author / Creator
Gazal, Steven
Arnaud, Pauline
Benarroch, Louise
Gross, Marie-Sylvie
Buratti, Julien
Boland, Anne
Meyer, Vincent
Zouali, Habib
Hanna, Nadine
Milleron, Olivier
Stheneur, Chantal
Bourgeron, Thomas
Desguerre, Isabelle
Jacob, Marie-Paule
Gouya, Laurent
Génin, Emmanuelle
Deleuze, Jean-François
Jondeau, Guillaume
Boileau, Catherine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6244213
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6244213
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0164-9
