Cargando…
High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S)
BACKGROUND: Being a newly defined disease, RVCL-S is underrecognized by clinicians globally. It is an autosomal dominantly inherited small vessel disease caused by the heterozygous C-terminal frameshift mutation in TREX1 gene. RVCL-S is featured by cerebral dysfunction, retinopathy, and vasculopathy...
Autores principales: | Xie, Nina, Sun, Qiying, Yang, Jinxia, Zhou, Yangjie, Xu, Hongwei, Zhou, Lin, Zhou, Yafang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847589/ https://www.ncbi.nlm.nih.gov/pubmed/33516249 http://dx.doi.org/10.1186/s13023-021-01712-9 |
Ejemplares similares
-
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic manifestations (RVCL-S): An update on basic science and clinical perspectives
por: Wilms, A.E., et al.
Publicado: (2022) -
Cerebrovascular reactivity in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
por: Hoogeveen, Evelien S, et al.
Publicado: (2020) -
Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia
por: He, Runcheng, et al.
Publicado: (2019) -
Serial magnetic resonance imaging changes of pseudotumor lesions in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a case report
por: Yan, Yuying, et al.
Publicado: (2021) -
Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy
por: Ford, Andria L., et al.
Publicado: (2020)