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Results 1 - 10 of 12 for "Aicardi-Goutieres" syndrome 2
  1. Aicardi-Goutières syndrome 
    ... gov AICARDI-GOUTIERES SYNDROME 1; AGS1 AICARDI-GOUTIERES SYNDROME 2; AGS2 AICARDI-GOUTIERES SYNDROME 3; AGS3 AICARDI-GOUTIERES SYNDROME 4; AGS4 ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. 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
  3. RNASEH2B gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/rnaseh2b - Genetics
  4. 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
  5. 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
  6. 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
  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. 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. RNAse T2-deficient leukoencephalopathy 
    ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  10. 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