Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic a...
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
About this item
Full title
Author / Creator
Meester, Josephina A.N. , Vandeweyer, Geert , Pintelon, Isabel , Lammens, Martin , Van Hoorick, Lana , De Belder, Simon , Waitzman, Kathryn , Young, Luciana , Markham, Larry W. , Vogt, Julie , Richer, Julie , Beauchesne, Luc M. , Unger, Sheila , Superti-Furga, Andrea , Prsa, Milan , Dhillon, Rami , Reyniers, Edwin , Dietz, Harry C. , Wuyts, Wim , Mortier, Geert , Verstraeten, Aline , Van Laer, Lut and Loeys, Bart L.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small num...
Alternative Titles
Full title
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Authors, Artists and Contributors
Author / Creator
Vandeweyer, Geert
Pintelon, Isabel
Lammens, Martin
Van Hoorick, Lana
De Belder, Simon
Waitzman, Kathryn
Young, Luciana
Markham, Larry W.
Vogt, Julie
Richer, Julie
Beauchesne, Luc M.
Unger, Sheila
Superti-Furga, Andrea
Prsa, Milan
Dhillon, Rami
Reyniers, Edwin
Dietz, Harry C.
Wuyts, Wim
Mortier, Geert
Verstraeten, Aline
Van Laer, Lut
Loeys, Bart L.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5207316
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5207316
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2016.126
