Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene

Due to life-threatening complications, vascular Ehlers-Danlos syndrome (vEDS) is the most severe form of EDS. Because the syndrome is associated with a shortened life expectancy and variable clinical presentation, diagnosis confirmed by genetic testing is crucial to determining appropriate treatment...

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Detalles Bibliográficos
Autores principales: Huljev Frković, Sanda, Marija Slišković, Ana, Toivonen, Mia, Crkvenac Gregorek, Andrea, Šutalo, Ana, Vrkić Kirhmajer, Majda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Medical Schools 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468738/
https://www.ncbi.nlm.nih.gov/pubmed/36046937
http://dx.doi.org/10.3325/cmj.2022.63.394

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