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Aicardi Goutieres syndrome
- Aicardi-Goutières syndrome is a disorder with variable signs and symptoms, but it primarily affects the brain, the immune system, and the skin. Aicardi-Goutières ...
- ... TREX1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... organs, resulting in the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Variants in the ...
- ... RNASEH2B gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction ( ... health problems. The RNASEH2B gene mutations that cause Aicardi-Goutières syndrome likely produce a dysfunctional RNase H2 complex. When ...
- ... SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction ( ... that leads to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition DCIP dendritic cell- ...
- ... the IFIH1 gene have been found to cause Aicardi-Goutières syndrome. This disorder is characterized by abnormalities of the ... the brain.The IFIH1 gene variants involved in Aicardi-Goutières syndrome are described as "gain-of-function" variants because ...
- ... ADAR gene have been identified in people with Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction ( ... organs, leading to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition ADAR gene variants ...
- ... been found to be a rare cause of Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction ( ... response leads to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition AGS8 FLJ38273 U7 ...
- ... RNU7-1 gene have been found to cause Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction ( ... response leads to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition AGS9 RF00066 RNA, ...
- Leukodystrophies (National Library of Medicine)What are leukodystrophies? Leukodystrophies are a group of rare genetic disorders that affect the central nervous system (CNS). The CNS is made up of your ...
- ... Stefan Wieczorek Ruhr University Bochum, Germany Shannon Wieloch Aicardi-Goutières Syndrome Association Crested Butte, CO Janey Wiggs Harvard Medical ...
