Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib tre...
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
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England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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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 ADAR gene and are classified as Aicardi-Goutières Syndrome type 6. Here, we present a new homozygous pathogen...
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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
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TN_cdi_doaj_primary_oai_doaj_org_article_ae4c0a1bfbf6487cb10eae604e473af0
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ae4c0a1bfbf6487cb10eae604e473af0
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ISSN
1546-0096
E-ISSN
1546-0096
DOI
10.1186/s12969-024-01036-5
