Novel and recurrent mutations in WISP3 and an atypical phenotype

Am J Med Genet A. 2015 Oct;167A(10):2481-4. doi: 10.1002/ajmg.a.37164. Epub 2015 May 18.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Substitution
  • CCN Intercellular Signaling Proteins / genetics*
  • Cartilage, Articular / metabolism*
  • Cartilage, Articular / pathology
  • Exons
  • Family
  • Female
  • Gene Expression
  • Heterozygote
  • Homozygote
  • Humans
  • India
  • Introns
  • Joint Diseases / congenital*
  • Joint Diseases / genetics
  • Joint Diseases / pathology
  • Male
  • Mutation*
  • Phenotype

Substances

  • CCN Intercellular Signaling Proteins
  • CCN6 protein, human

Supplementary concepts

  • Arthropathy, progressive pseudorheumatoid, of childhood