A novel mutation in COL3A1 associates to vascular Ehlers–Danlos syndrome with predominant musculoskeletal involvement

BACKGROUND: Vascular Ehlers–Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. It is generally considered the most severe form of Ehlers–Danlos syndrome (EDS) due to an increased risk of spontaneous artery or organ rupture. vEDS has a...

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Detalles Bibliográficos
Autores principales: Ruscitti, Federica, Trevisan, Lucia, Rosti, Giulia, Gotta, Fabio, Cianflone, Annalia, Geroldi, Alessandro, Origone, Paola, Pichiecchio, Anna, Viglio, Simona, Iascone, Maria, Mandich, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457703/
https://www.ncbi.nlm.nih.gov/pubmed/34318601
http://dx.doi.org/10.1002/mgg3.1753

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