De novo heterozygous pathogenic FBN1 variant in an autopsy case of multiple aneurysms and right renal artery dissection: a case report

BACKGROUND: Marfan syndrome is a potentially fatal inherited autosomal dominant condition impacting the cardiovascular and the skeletal system with an estimated 25% cases caused by sporadic genetic variations. Given the genetic inheritance pattern, an autopsy of probands with Marfan syndrome–associa...

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Detalles Bibliográficos
Autores principales: MacGowan, Taylor, McClinchey, Taylor, Parcha, Vibhu, Vatta, Matteo, Litovsky, Silvio, Arora, Pankaj, Benson, Paul V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291322/
https://www.ncbi.nlm.nih.gov/pubmed/37378398
http://dx.doi.org/10.3389/fcvm.2023.1170460

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291322/
https://www.ncbi.nlm.nih.gov/pubmed/37378398
http://dx.doi.org/10.3389/fcvm.2023.1170460

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