Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier

Background:TGFB3 variants cause Loeys–Dietz syndrome type 5, a syndromic form of thoracic aortic aneurysm and dissection. The exact disease phenotype is hard to delineate because of few identified cases and highly variable clinical representation.Methodology: We provide the results of a haplotype an...

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Bibliographic Details
Main Authors: Melanie H. A. M. Perik, Emmanuela Govaerts, Steven Laga, Inge Goovaerts, Johan Saenen, Emeline Van Craenenbroeck, Josephina A. N. Meester, Ilse Luyckx, Inez Rodrigus, Aline Verstraeten, Lut Van Laer, Bart L. Loeys
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Genetics
Subjects:
Loeys–Dietz syndrome (LDS)
TGFB3
thoracic aortic aneurysm and dissection (TAAD)
founder
genetic modifiers
connective tissue disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1251675/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1251675/full

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