Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test

• Prif Awduron: Chikako Senju (Awdur), Yuka Nakazawa (Awdur), Mayuko Shimada (Awdur), Dai Iwata (Awdur), Michiko Matsuse (Awdur), Katsumi Tanaka (Awdur), Yasushi Miyazaki (Awdur), Shinichi Moriwaki (Awdur), Norisato Mitsutake (Awdur), Tomoo Ogi (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterised by progressive encephalopathy, involving microcephaly, intracranial calcification, and cerebrospinal fluid lymphocytosis with increased interferon-α concentrations. The clinical features of AGS overlap with fetal cerebral ano...