Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients-Reference-Cited by-同舟云学术

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Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients

Published:2015 Issue:1 Volume:10 Page:9
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Campens Laurence,Callewaert Bert,Muiño Mosquera Laura,Renard Marjolijn,Symoens Sofie,De Paepe Anne,Coucke Paul,De Backer Julie

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-014-0221-6.pdf

Reference44 articles.

1. Thoracic Aortic Aneurysm and Dissection

2. The revised Ghent nosology for the Marfan syndrome

3. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

4. Heterozygous TGFBR2 mutations in Marfan syndrome

5. Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

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