Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature

BACKGROUND: Marfan syndrome (MFS) is a clinically heterogeneous hereditary connective tissue disorder. Severe cardiovascular manifestations (i.e., aortic aneurysm and dissection) are the most life‐threatening complications. Most of the cases are caused by mutations, a minor group of which are copy n...

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Detalles Bibliográficos
Autores principales: Buki, Gergely, Szalai, Renata, Pinter, Adrienn, Hadzsiev, Kinga, Melegh, Bela, Rauch, Tibor, Bene, Judit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10337287/
https://www.ncbi.nlm.nih.gov/pubmed/36945115
http://dx.doi.org/10.1002/mgg3.2166

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