Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report
Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report
About this item
Full title
Author / Creator
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
We report a patient diagnosed with Aicardi-Goutières syndrome (AGS) with homozygous TREX1 gene mutation. Her magnetic resonance angiography (MRA) showed intracerebral large artery disease, which was rarely reported in the past in TREX1 AGS patients. Her younger sister also had homozygous TREX1 gene mutation and died of necrotizing enterocolitis. In...
Alternative Titles
Full title
Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2412218019
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2412218019
Other Identifiers
ISSN
1590-1874
E-ISSN
1590-3478
DOI
10.1007/s10072-020-04516-0
