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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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Detalles Bibliográficos
Autores principales:	Wu, De, Fang, Liwei, Huang, Ting, Ying, Songcheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8113616/ https://www.ncbi.nlm.nih.gov/pubmed/33996686 http://dx.doi.org/10.3389/fped.2021.634281

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