Retinal vasculopathy with cerebral leukoencephalopathy with TREX1 mutation: a rare entity with a new mutation

Retinal vasculopathy with cerebral leukoencephalopathy with TREX1 mutation: a rare entity with a new mutation

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant vasculopathy caused by heterozygous C-terminal truncating mutations in three-prime repair exonuclease (TREX1) gene. The clinical spectrum includes vascular retinopathy, focal brai...

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Bibliographic Details
Main Authors: Michela Giacoma Pin, Lucia Corrado, Gionata Strigaro, Andrea Bianco, Mattia Bellan, Claudio Musetti, Letizia Mazzini, Roberto Cantello, Sandra D’Alfonso, Domizia Vecchio
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Rare
Subjects:
RVCL-S
TREX1 mutation
Tumefactive brain lesions
Case report
Online Access:http://www.sciencedirect.com/science/article/pii/S2950008724000152
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http://www.sciencedirect.com/science/article/pii/S2950008724000152

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