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Results 1 - 7 of 7 for "Aicardi-Goutieres" syndrome 7
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  1. Aicardi-Goutières syndrome 
    ... Registry: Aicardi-Goutieres syndrome 6 Genetic Testing Registry: Aicardi-Goutieres syndrome 7 Genetic Testing Registry: Aicardi-Goutieres syndrome 1 Genetic ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. SAMHD1 gene 
    ... DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  3. RNAse T2-deficient leukoencephalopathy 
    ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016.03.009. Epub 2016 Apr 7. Citation on PubMed
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  4. RNASET2 gene 
    ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4):604-10. doi: 10.1016/j.ejpn.2016.03.009. Epub 2016 Apr 7. Citation on PubMed
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  5. TREX1 gene 
    ... TREX1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... and result in the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Mutations in the ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  6. IFIH1 gene 
    ... gene mutations have been found in people with Aicardi-Goutières syndrome. This disorder is characterized by abnormalities of the ... the brain.The IFIH1 gene mutations involved in Aicardi-Goutières syndrome are described as "gain-of-function" because they ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  7. ADAR gene 
    ... gene mutations have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... organs, leading to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition More than 180 ...
    https://medlineplus.gov/genetics/gene/adar - Genetics