Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

The UK National Diagnostic Service for Ehlers-Danlos Syndromes (EDS) was established in 2009 for the rare types of EDS. Vascular EDS (vEDS) is an inherited connective tissue disorder caused by pathogenic variants in the COL3A1 gene. Associated tissue fragility affects multiple organ systems, increas...

Descripción completa

Detalles Bibliográficos
Autores principales: Bowen, Jessica M., Hernandez, Monica, Johnson, Diana S., Green, Claire, Kammin, Tammy, Baker, Duncan, Keigwin, Sylvia, Makino, Seiko, Taylor, Naomi, Watson, Oliver, Wheeldon, Nigel M., Sobey, Glenda J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10326011/
https://www.ncbi.nlm.nih.gov/pubmed/36977837
http://dx.doi.org/10.1038/s41431-023-01343-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10326011/
https://www.ncbi.nlm.nih.gov/pubmed/36977837
http://dx.doi.org/10.1038/s41431-023-01343-7

Ejemplares similares