Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

Am J Med Genet A. 2011 Jan;155A(1):235-7. doi: 10.1002/ajmg.a.33778.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chilblains / genetics
  • Chilblains / pathology
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Lupus Erythematosus, Cutaneous / genetics
  • Lupus Erythematosus, Cutaneous / pathology
  • Male
  • Middle Aged
  • Monomeric GTP-Binding Proteins / genetics*
  • Mutation / genetics
  • Phenotype*
  • SAM Domain and HD Domain-Containing Protein 1

Substances

  • SAM Domain and HD Domain-Containing Protein 1
  • SAMHD1 protein, human
  • Monomeric GTP-Binding Proteins

Supplementary concepts

  • Chilblain lupus 1