[A clinical course of patient with Aicardi-Goutieres syndrome due to SAMHD1 gene abnormality]

No To Hattatsu. 2017 Jan;49(1):51-2.
[Article in Japanese]
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Autoimmune Diseases of the Nervous System / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Nervous System Malformations / genetics*
  • SAM Domain and HD Domain-Containing Protein 1 / genetics*

Substances

  • SAM Domain and HD Domain-Containing Protein 1
  • SAMHD1 protein, human

Supplementary concepts

  • Aicardi-Goutieres syndrome