Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures

The study describes all patients in Denmark with vascular Ehlers–Danlos syndrome (vEDS). Carriers of pathogenic or likely pathogenic COL3A1 variants were retrospectively identified through registries and specialized clinics. Medical records were reviewed for vascular‐ or organ ruptures and invasive...

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Detalles Bibliográficos
Autores principales: Sølyst, Sofus, Oksjoki, Riina, Farholt, Stense, Nielsen, Dorte Guldbrand, Christensen, Alex H., Fagerberg, Christina R., Risom, Lotte, Gregersen, Pernille Axél, Christensen, Maria Bejerholm, Rasmussen, Torsten Bloch, Diness, Birgitte Rode
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544160/
https://www.ncbi.nlm.nih.gov/pubmed/35699227
http://dx.doi.org/10.1111/cge.14176

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544160/
https://www.ncbi.nlm.nih.gov/pubmed/35699227
http://dx.doi.org/10.1111/cge.14176

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