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Results 1 - 9 of 11 for "Aicardi-Goutieres" syndrome 4
  1. Aicardi-Goutières syndrome 
    ... Registry: Aicardi-Goutieres syndrome 3 Genetic Testing Registry: Aicardi-Goutieres syndrome 4 Genetic Testing Registry: Aicardi-Goutieres syndrome 5 Aicardi- ...
    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 ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  3. RNASEH2B gene 
    ... P, Crow YJ. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct;81(4):713-25. doi: 10.1086/521373. Epub 2007 ...
    https://medlineplus.gov/genetics/gene/rnaseh2b - Genetics
  4. 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. ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  5. 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. ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  6. RNU7-1 gene 
    ... 1 NCBI Gene ClinVar Liu A, Ying S. Aicardi-Goutieres syndrome: A monogenic type I interferonopathy. Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 ...
    https://medlineplus.gov/genetics/gene/rnu7-1 - Genetics
  7. LSM11 gene 
    ... LSM11 NCBI Gene ClinVar Liu A, Ying S. Aicardi-Goutieres syndrome: A monogenic type I interferonopathy. Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 ...
    https://medlineplus.gov/genetics/gene/lsm11 - Genetics
  8. SAMHD1 gene 
    ... D, Alcausin M, Rice GI, Crow YJ. Familial Aicardi-Goutieres syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A. 2010 Apr;152A(4):938-42. doi: 10.1002/ajmg.a.33359. ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  9. ADAR gene 
    ... IFI4 interferon-induced protein 4 interferon-inducible protein 4 Tests of ADAR PubMed DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH ADENOSINE DEAMINASE, RNA-SPECIFIC; ADAR NCBI Gene ClinVar Crow YJ. Aicardi-Goutieres Syndrome. 2005 Jun 29 [updated 2016 Nov 22]. In: ...
    https://medlineplus.gov/genetics/gene/adar - Genetics