Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum
Iran J Child Neurol. 2024 Summer;18(3):117-129. doi: 10.22037/ijcn.v18i3.43274. Epub 2024 Jun 22. ABSTRACT OBJECTIVES: Mutations in the TREX1 gene cause Aicardi-Goutières syndrome (AGS) 1, associated …