Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1

Arthritis Rheum. 2004 Aug;50(8):2719-20. doi: 10.1002/art.20295.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Carrier Proteins / genetics*
  • Humans
  • Male
  • Mutation
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Nervous System Diseases / genetics*
  • Skin Diseases / genetics*
  • Syndrome
  • Vascular Diseases / genetics*

Substances

  • Carrier Proteins
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human