A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family

Br J Dermatol. 2008 Mar;158(3):621-3. doi: 10.1111/j.1365-2133.2007.08365.x. Epub 2007 Dec 6.
No abstract available

Publication types

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

MeSH terms

  • Asian People / genetics*
  • Consanguinity
  • Family
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Nail Diseases / etiology
  • Nail Diseases / genetics*
  • Nails, Malformed / genetics*
  • Pedigree
  • Skin Neoplasms / genetics*
  • Thrombospondins / genetics*

Substances

  • RSPO4 protein, human
  • Thrombospondins