Article

Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

2024-01-24

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Aicardi-Goutières Syndrome is a monogenic type 1 interferonopathy with infantile onset, characterized by a variable degree of neurological damage. Approximately 7% of Aicardi-Goutières Syndrome cases are caused by pathogenic variants in the <italic>ADAR</italic> gene and are classified as Aicardi-Goutières Syndrome type 6. Here we present a new homozygous pathoge...

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Literature Corpus work: f444dff4-8b16-52a1-aa90-814bcd69d032
DOI: 10.21203/rs.3.rs-3854099/v1

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