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...

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Guardat en:
Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Xie, Nina, Sun, Qiying, Yang, Jinxia, Zhou, Yangjie, Xu, Hongwei, Zhou, Lin, Zhou, Yafang
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7847589/
https://ncbi.nlm.nih.gov/pubmed/33516249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-021-01712-9
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