Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of n...
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
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Full title
Author / Creator
Arnaud, Pauline , Hanna, Nadine , Benarroch, Louise , Aubart, Mélodie , Bal, Laurence , Bouvagnet, Patrice , Busa, Tiffany , Dulac, Yves , Dupuis-Girod, Sophie , Edouard, Thomas , Faivre, Laurence , Gouya, Laurent , Lacombe, Didier , Langeois, Maud , Leheup, Bruno , Milleron, Olivier , Naudion, Sophie , Odent, Sylvie , Tchitchinadze, Maria , Ropers, Jacques , Jondeau, Guillaume and Boileau, Catherine
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Heritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominant transmission and are genetically heterogeneous. Our objective was to describe the relevance of molecular diagnosis in these patients...
Alternative Titles
Full title
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
Authors, Artists and Contributors
Author / Creator
Hanna, Nadine
Benarroch, Louise
Aubart, Mélodie
Bal, Laurence
Bouvagnet, Patrice
Busa, Tiffany
Dulac, Yves
Dupuis-Girod, Sophie
Edouard, Thomas
Faivre, Laurence
Gouya, Laurent
Lacombe, Didier
Langeois, Maud
Leheup, Bruno
Milleron, Olivier
Naudion, Sophie
Odent, Sylvie
Tchitchinadze, Maria
Ropers, Jacques
Jondeau, Guillaume
Boileau, Catherine
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_03586833v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03586833v1
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0444-y
