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Results 1 - 10 of 21 for Aicardi syndrome
  1. Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. ...
  2. Aicardi syndrome is a rare disorder. In this condition, the structure that connects the two sides of the ... The cause of Aicardi syndrome is unknown at this time. In some cases, experts believe it may be a result of a gene defect ...
  3. Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.Most newborns with Aicardi-Goutières syndrome do not ...
  4. Aicardi-Goutieres Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... skin. AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus ...
  5. Birth Disorders of the Brain and Spinal Cord From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Neural Tube Defects/Specifics ... Neural Tube Defects ... Brain Diseases/Specifics ... Brain Diseases ... Hydrocephalus/Specifics ... Hydrocephalus ... Cerebellar Disorders/Specifics
  6. ... RNASEH2A gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... system activation. The RNASEH2A gene mutations that cause Aicardi-Goutières syndrome likely result in a dysfunctional RNase H2 complex. ...
  7. Brain Malformations (National Library of Medicine)  
    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's ...
  8. ... 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 ...
  9. ... SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... systems that lead to the characteristic features of Aicardi-Goutières syndrome. More About This Health Condition AGS5 DCIP dendritic ...
  10. ... 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 ...
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