Adar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitis

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification – Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations

(2022) Lingjuan Liu et al.   Frontiers in Pediatrics

The role of RNA editing enzyme ADAR1 in human disease

(2021) Brian Song et al.   Wiley Interdisciplinary Reviews-RNA

Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond

(2016) Yanick Crow et al.   NEUROPEDIATRICS

ADAR1 Prevents Liver Injury from Inflammation and Suppresses Interferon Production in Hepatocytes

(2015) Guoliang Wang et al.   AMERICAN JOURNAL OF PATHOLOGY

Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria

(2014) Qi Liu et al.   BMC Medical Genetics

A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1

(2013) John H Livingston et al.   JOURNAL OF MEDICAL GENETICS

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

(2012) Gillian I Rice et al.   NATURE GENETICS