A case of Aicardi-Goutières syndrome caused by TREX1 gene mutation

• Main Authors: Zheng Chenhan (Author), Shao Jun (Author), Ding Yang (Author), Yin Linliang (Author), Gu Xiaowen (Author), Ji Chunya (Author), Deng Xuedong (Author)
• Format: Book
• Published: BMC, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Aicardi-Goutières syndrome (AGS) is a rare genetic disorder involving the central nervous system and autoimmune abnormalities, leading to severe intellectual and physical disability with poor prognosis. AGS has a phenotype similar to intrauterine viral infection, which often leads to delay...