Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene

Endocrinol Nutr. 2016 Aug-Sep;63(7):369-71. doi: 10.1016/j.endonu.2016.03.010. Epub 2016 May 17.
[Article in English, Spanish]
No abstract available

MeSH terms

  • Adult
  • Anxiety / genetics
  • Binding Sites / genetics
  • Child
  • Codon, Nonsense / genetics
  • Cushing Syndrome / genetics*
  • Exons / genetics
  • Fatigue / genetics
  • Female
  • Frameshift Mutation*
  • Heterozygote
  • Hirsutism / genetics*
  • Humans
  • Point Mutation*
  • Protein Domains
  • Receptors, Glucocorticoid / chemistry
  • Receptors, Glucocorticoid / genetics*
  • Zinc Fingers / genetics

Substances

  • Codon, Nonsense
  • NR3C1 protein, human
  • Receptors, Glucocorticoid