Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare, underrecognized, systemic small vessel disease caused by heterozygous C-terminal truncating TREX1 mutations. The disease is characterized by vascular retinopathy, focal neurological complaints, cog...

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Detalles Bibliográficos
Autores principales: Wilms, A.E., de Boer, I., Terwindt, G.M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9616387/
https://www.ncbi.nlm.nih.gov/pubmed/36324396
http://dx.doi.org/10.1016/j.cccb.2022.100046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9616387/
https://www.ncbi.nlm.nih.gov/pubmed/36324396
http://dx.doi.org/10.1016/j.cccb.2022.100046

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