Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants

TREX1 (three prime repair exonuclease 1) gene encodes DNA 3′ end repair exonuclease that plays an important role in DNA repair. Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutières syndrome (AGS). Here, we report an AGS case of a 6-mo...

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Bibliographic Details
Main Authors: De Wu, Liwei Fang, Ting Huang, Songcheng Ying
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-04-01
Series:Frontiers in Pediatrics
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.634281/full