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Results 1 - 9 of 11 for Aicardi Goutieres syndrome
  1. 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
  2. RNASEH2C gene 
    ... RNASEH2C gene have been identified in people with Aicardi-Goutières syndrome, a disorder that often involves severe brain dysfunction ( ... health problems. The RNASEH2C gene mutations that cause Aicardi-Goutières syndrome likely produce a dysfunctional RNase H2 complex. When ...
    https://medlineplus.gov/genetics/gene/rnaseh2c - Genetics
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. RNASET2 gene 
    ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  9. SCN9A gene 
    ... 22. Citation on PubMed Fertleman CR, Ferrie CD, Aicardi J, Bednarek ... familial rectal pain syndrome). Neurology. 2007 Aug 7;69(6):586-95. ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics