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  1. Aicardi syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/aicardi-syndrome
    ... AICARDI SYNDROME; AIC Scientific Articles on PubMed PubMed References Aicardi J. Aicardi syndrome. Brain Dev. 2005 Apr;27(3):164-71. ...
  2. ADAR gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/adar
    ... ADAR Gene and Variant Databases NCBI Gene ClinVar References Crow YJ. Aicardi-Goutieres Syndrome. 2005 Jun 29 [updated 2016 Nov 22]. In: ...
  3. Aicardi-Goutières syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome
    ... SYNDROME 7; AGS7 AICARDI-GOUTIERES SYNDROME 5; AGS5 AICARDI-GOUTIERES SYNDROME 6; AGS6 Scientific Articles on PubMed PubMed References Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz ...
  4. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Cree and/or ... 
    https://www.ncbi.nlm.nih.gov/books/NBK541231
    ... Frequency Ethnicity (Specific Region of Canada) Reference Sequences References Cree encephalitis (see Aicardi-Goutières syndrome ) AR TREX1 c.490C>T p.Arg164Ter 100% ...
  5. Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK546576
    ... View in own window Gene Phenotype 1 TREX1 Aicardi-Goutières ... entry, or cited reference for more information. 2. Pathogenic variants typically affect ...
  6. RNASEH2C gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/rnaseh2c
    ... Health Condition Other Names for This Gene AGS3 aicardi-Goutieres syndrome 3 ... References Chon H, Vassilev A, DePamphilis ML, Zhao Y, ...
  7. Brain Malformations | MedlinePlus 
    https://medlineplus.gov/brainmalformations.html
    ... diagnosis by MRI. Brain Malformations -- see more articles ... (Medical Encyclopedia) Also in Spanish Topic Image MEDICAL ENCYCLOPEDIA Aicardi syndrome Brain surgery Brain surgery - discharge Head CT scan ...
  8. Childhood Liver Cancer Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65790
    ... 90%) die in the first year of life. Aicardi syndrome Aicardi syndrome is presumed to be an X-linked condition ... 6, 2003. [ PubMed : 12939582 ] Kamien BA, Gabbett MT: Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration. Am J ...
  9. TREX1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/trex1
    ... other processes. Health Conditions Related to Genetic Changes Aicardi-Goutières syndrome At least 82 mutations in the TREX1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ...
  10. SAMHD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/samhd1
    ... viral infections. Health Conditions Related to Genetic Changes Aicardi-Goutières syndrome At least 78 mutations in the SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ...
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