Associated Papers
Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.
Świerczyńska M et al.
Journal of Personalized Medicine, 2023
Endocrinopathies in Aicardi Goutières syndrome-A descriptive case series.
Worth C et al.
Clinical Case Reports, 2020
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
25604658 (PubMed )
Supplement: supplement_1.docx
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G et al.
American Journal of Human Genetics, 2007
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