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Results 1 - 10 of 12 for "Aicardi-Goutieres" syndrome 3
  1. Aicardi-Goutières syndrome 
    ... Registry: Aicardi-Goutieres syndrome 2 Genetic Testing Registry: Aicardi-Goutieres syndrome 3 Genetic Testing Registry: Aicardi-Goutieres syndrome 4 Genetic ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. TREX1 gene 
    ... the eye (the retina). As in people with Aicardi-Goutières syndrome, the absence or impaired function of the three prime repair exonuclease 1 enzyme may cause immune ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  3. IFIH1 gene 
    ... Shirai T, Ohara O, Fujita T, Heike T. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j. ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  4. RNASEH2A gene 
    ... Shaban NM, Hollis T. RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. J Mol Med (Berl). 2009 Jan;87(1):25-30. doi: 10.1007/s00109-008-0422-3. Epub 2008 Nov 26. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/rnaseh2a - Genetics
  5. SAMHD1 gene 
    ... genome stability. Ann Rheum Dis. 2015 Mar;74(3):e17. doi: ... Aicardi-Goutieres Syndrome and Beyond. Neuropediatrics. 2016 Dec;47(6):355- ...
    https://medlineplus.gov/genetics/gene/samhd1 - 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. 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
  8. 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
  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