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Neuropathological Findings in a Case of IFIH1-Related Aicardi–Goutières Syndrome
Aicardi–Goutières syndrome (AGS) is a rare syndrome characterized by calcification, diffuse demyelination, and variable degree of brain atrophy. The syndrome is genetically heterogeneous with mutations in 7 genes, including TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1 (interferon-in...
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| I publikationen: | Pediatr Dev Pathol |
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| Huvudupphovsmän: | , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
2019
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8130830/ https://ncbi.nlm.nih.gov/pubmed/30952201 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1093526619837797 |
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