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Up to: Hereditary disorder of connective tissue · Type 1 interferonopathy
RNASEH2C-related type 1 interferonopathy
Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.
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Aicardi-Goutieres syndrome 3 0 trials