Associated Papers
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations in conjunction with systemic lupus erythematosus: Missed diagnosis or misdiagnosis?
Wang X et al.
Immunity, Inflammation and Disease, 2024
Kidney-Predominant Thrombotic Microangiopathy Associated With TREX1 Frameshift Mutation.
Song ZR et al.
Kidney International Reports, 2023
High clinical heterogeneity in a Chinese pedigree of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S).
Xie N et al.
Orphanet Journal of Rare Diseases, 2021
A 44-year-old man with eye, kidney, and brain dysfunction.
Vodopivec I et al.
Annals of Neurology, 2016
Rare variants in the TREX1 gene and susceptibility to autoimmune diseases.
Barizzone N et al.
Biomed Research International, 2013
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
Crow YJ et al.
Human Molecular Genetics, 2009
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
Kavanagh D et al.
Cell Cycle (georgetown, Tex.), 2008
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.
Richards A et al.
Nature Genetics, 2007
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