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Results 1 - 9 of 9 for Aicardi Goutieres syndrome 5
  1. Aicardi-Goutières syndrome 
    ... Registry: Aicardi-Goutieres syndrome 4 Genetic Testing Registry: Aicardi-Goutieres syndrome 5 Aicardi-Goutières syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. TREX1 gene 
    ... in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Apr;80(4):811-5. doi: 10.1086/513443. Epub 2007 Feb 19. ...
    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.ajhg.2014.06.007. ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  4. SAMHD1 gene 
    ... systems that lead to the characteristic features of Aicardi-Goutières syndrome. More About This Health Condition AGS5 DCIP dendritic cell-derived IFNG-induced protein HDDC1 Mg11 monocyte protein 5 MOP-5 SAM domain and HD domain 1 ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  5. ADAR gene 
    ... on PubMed Fisher AJ, Beal PA. Effects of Aicardi-Goutieres syndrome ... hereditaria. J Dermatol. 2013 May;40(5):336-43. doi: 10.1111/j.1346-8138. ...
    https://medlineplus.gov/genetics/gene/adar - Genetics
  6. Paroxysmal extreme pain disorder 
    ... defects and phenotypes. Neuron. 2006 Dec 7;52(5):767-74. doi: ... familial rectal pain syndrome). Neurology. 2007 Aug 7;69(6):586-95. ...
    https://medlineplus.gov/.../paroxysmal-extreme-pain-disorder - Genetics
  7. RNAse T2-deficient leukoencephalopathy 
    ... anterior temporal lobe cysts. Neuropediatrics. 1998 Oct;29(5):225-8. doi: ... and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - 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