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Aortic Dissection in a Patient with Novel Frameshift COL5A1 Variant of Classical Ehlers-Danlos Syndrome

Classical Ehlers-Danlos syndrome (cEDS) is one of the 13 subtypes of Ehlers-Danlos syndrome, which has the major clinical criteria of hyperextensibility skin, atrophic scars, and generalised joint hypermobility. The occurrence of aortic dissection has been described in some subtypes of Ehlers-Danlos...

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Detalles Bibliográficos
Autores principales: Caley, Lídia, Campar, Ana, Mendonça, Teresa, Farinha, Fátima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SMC Media Srl 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10035622/
https://www.ncbi.nlm.nih.gov/pubmed/36970158
http://dx.doi.org/10.128f90/2023_003698