Identification of a novel missense mutation in the NOD2 gene in a Chinese child with early-onset sarcoidosis

Indian J Dermatol Venereol Leprol. 2018 Sep-Oct;84(5):645. doi: 10.4103/ijdvl.IJDVL_645_16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Arthritis / diagnosis*
  • Arthritis / genetics*
  • Asian People / genetics*
  • Child
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Nod2 Signaling Adaptor Protein / genetics*
  • Sarcoidosis / diagnosis
  • Sarcoidosis / genetics
  • Synovitis / diagnosis*
  • Synovitis / genetics*
  • Uveitis / diagnosis*
  • Uveitis / genetics*

Substances

  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein

Supplementary concepts

  • Blau syndrome