[Aicardi-Goutieres syndrome type 6 associated with a compound heterozygous variant in ADAR: a first case report in the Russian population].

• Tác giả: D V I, T N Proskokova, S A Seregin
• Ngôn ngữ: eng
• Ký hiệu phân loại: 297.1248 Sources of Islam
• Thông tin xuất bản: Russia (Federation) : Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova , 2025
• Bộ sưu tập: NCBI
• ID: 55457

Tóm tắt

 Aicardi-Goutieres syndrome (AGS) is a rare hereditary disorder with different types of inheritance manifested by progressive leukoencephalopathy with early onset, sharing common features with autoimmune disease. This article describes the first Russian case of AGS type 6 (AGS6) associated with compound heterozygote c.577C>
 G (p.Pro193Ala)+c.2304G>
 A (p.Trp768*) in