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

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

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 anom...

Full description

Bibliographic Details
Main Authors: Chikako Senju, Yuka Nakazawa, Mayuko Shimada, Dai Iwata, Michiko Matsuse, Katsumi Tanaka, Yasushi Miyazaki, Shinichi Moriwaki, Norisato Mitsutake, Tomoo Ogi
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Pediatrics
Subjects:
Aicardi-Goutières syndrome (AGS)
SAMHD1
unscheduled DNA synthesis (UDS)
cockayne syndrome (CS)
transcription coupled repair (TCR)
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1048002/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.1048002/full

Similar Items