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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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書目詳細資料
發表在:Pediatr Dev Pathol
Main Authors: Gilani, Ahmed, Adang, Laura A, Vanderver, Adeline, Collins, Abigail, Kleinschmidt-DeMasters, BK
格式: Artigo
語言:Inglês
出版: 2019
主題:
在線閱讀: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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