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Article

[Retinal vasculopathy with cerebral leukoencephalopathy carrying TREX1 mutation diagnosed by the intracranial calcification: a case report].

Rinsho shinkeigaku = Clinical neurology - 28 Feb 2018

Komaki Ryouhei, Ueda Takehiro, Tsuji Yukio, Miyawaki Toko, Kusuhara Sentaro, Hara Shigeo, Toda Tatsushi

Abstract excerpt

A 40-year-old woman with renal dysfunction for 2 years was admitted to our hospital suffering from a headache. Family history revealed that her mother had a headache, renal dysfunction, and brain infarction in younger age. She had a retinal hemorrhage, a retinal atrophy, pitting edema in her lower extremities. Her neurological findings were unremarkable. Brain imaging showed multiple white matter lesions...

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Identifiers

PMID: 29386495
DOI: 10.5692/clinicalneurol.cn-001096

Genes

TREX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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