Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Exploring the hereditary background of renal cancer in Denmark
por: Christensen, Maria Bejerholm, et al.
Publicado: (2019) -
Clinical Characteristics and Management of Children and Adults with Neurofibromatosis Type 1 and Plexiform Neurofibromas in Denmark: A Nationwide Study
por: Ejerskov, Cecilie, et al.
Publicado: (2022) -
Interfamilial transmission of HTLV-1 in the South of Bahia, Brazil
por: Gadelha, Sandra R, et al.
Publicado: (2014) -
Discovery of the interfamily grafting capacity of Petunia, a floricultural species
por: Kurotani, Ken-ichi, et al.
Publicado: (2022) -
A descriptive study of colorectal function in adults with Prader-Willi Syndrome: high prevalence of constipation
por: Kuhlmann, Louise, et al.
Publicado: (2014)