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Results 1 - 10 of 17 for Aicardi Goutieres syndrome
  1. Aicardi-Goutières 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 ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. Aicardi-Goutieres Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Aicardi-Goutières ...
    https://www.ninds.nih.gov/.../disorders/aicardi-goutieres-syndrome - External Health Links
  3. TREX1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  4. RNASEH2A gene 
    ... RNASEH2A gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction ( ... health problems. The RNASEH2A gene variants that cause Aicardi-Goutières syndrome likely produce a dysfunctional RNase H2 complex. When ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
  5. SAMHD1 gene 
    ... 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- ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  6. IFIH1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  7. ADAR gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/adar - Genetics
  8. LSM11 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/lsm11 - Genetics
  9. RNU7-1 gene 
    ... 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, ...
    https://medlineplus.gov/genetics/gene/rnu7-1 - Genetics
  10. 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 ...
    https://medlineplus.gov/leukodystrophies.html - Health Topics
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