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

• Main Authors: Chikako Senju (Author), Yuka Nakazawa (Author), Mayuko Shimada (Author), Dai Iwata (Author), Michiko Matsuse (Author), Katsumi Tanaka (Author), Yasushi Miyazaki (Author), Shinichi Moriwaki (Author), Norisato Mitsutake (Author), Tomoo Ogi (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: 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...