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Case report: JAK inhibition as promising treatment option of fatal RVCLS due to TREX1 mutation (pVAL235Glyfs(*)6)
INTRODUCTION: Autosomal dominant mutations in the C-terminal part of TREX1 (pVAL235Glyfs(*)6) result in fatal retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) without any treatment options. Here, we report on a treatment of a RVCLS patient with anti-retrovir...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9989011/ https://www.ncbi.nlm.nih.gov/pubmed/36895907 http://dx.doi.org/10.3389/fneur.2023.1118369 |