Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age

Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the COL3A1 gene. Despite its severe course, the rarity and extreme clinical variability of the disease can pose significant obstacles to a timely diagnosis. Early and accurate diagnosis may lead to improve...

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Detalles Bibliográficos
Autores principales: Taurino, Jacopo, Micaglio, Emanuele, Russo Raucci, Annalisa, Zanussi, Monica, Chessa, Massimo, Udugampolage, Nathasha Samali, Carrera, Paola, Pappone, Carlo, Pini, Alessandro
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/PMC10315819/
https://www.ncbi.nlm.nih.gov/pubmed/37404745
http://dx.doi.org/10.3389/fcvm.2023.1110392

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