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Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect
INTRODUCTION: Aicardi-Goutières (AGS) is a rare immune dysregulated disease due to mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or IFIH1. Clinical features include basal ganglia calcifications, white matter abnormalities, and cerebral atrophy. Severe systemic inflammation and chr...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2021
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7821736/ https://www.ncbi.nlm.nih.gov/pubmed/33482855 http://dx.doi.org/10.1186/s12969-021-00497-2 |