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

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 delays in genet...

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Detalles Bibliográficos
Autores principales: Chenhan, Zheng, Jun, Shao, Yang, Ding, Linliang, Yin, Xiaowen, Gu, Chunya, Ji, Xuedong, Deng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9945611/
https://www.ncbi.nlm.nih.gov/pubmed/36814213
http://dx.doi.org/10.1186/s12884-023-05436-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9945611/
https://www.ncbi.nlm.nih.gov/pubmed/36814213
http://dx.doi.org/10.1186/s12884-023-05436-5

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