Publication
Title
Aortic aneurysm : an underestimated serious finding in the EP300 mutation phenotypical spectrum
Author
Language
English
Source (journal)
European journal of medical genetics. - Paris
Publication
Amsterdam : Elsevier science bv , 2019
ISSN
1769-7212
DOI
10.1016/J.EJMG.2018.06.008
Volume/pages
62 :2 (2019) , p. 96
ISI
000456527400004
Pubmed ID
29906517
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Project info
Application of whole exome sequencing to identify the genetic defect in hereditary connective tissue disorders
Towards a better understanding of the molecular mechanisms underlying thoracic aortic aneurysms and dissections.
Identification and characterisation of genes involved in bicuspid aortic valve associated aortopathy.
Disentangling the role of the X-chromosome in the pathogenesis of thoracic aortic aneurysms and dissections.
Bicuspid Related Aortopathy, a Vibrant Exploration (BRAVE).
GENOMED - Genomics in Medicine.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identifier
Creation 01.03.2019
Last edited 24.11.2024
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