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...

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Detalles Bibliográficos
Autores principales: Perik, Melanie H. A. M., Govaerts, Emmanuela, Laga, Steven, Goovaerts, Inge, Saenen, Johan, Van Craenenbroeck, Emeline, Meester, Josephina A. N., Luyckx, Ilse, Rodrigus, Inez, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500191/
https://www.ncbi.nlm.nih.gov/pubmed/37719708
http://dx.doi.org/10.3389/fgene.2023.1251675

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500191/
https://www.ncbi.nlm.nih.gov/pubmed/37719708
http://dx.doi.org/10.3389/fgene.2023.1251675

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