A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia

Br J Dermatol. 2007 Jul;157(1):207-9. doi: 10.1111/j.1365-2133.2007.07949.x. Epub 2007 May 14.
No abstract available

Publication types

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

MeSH terms

  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / genetics*
  • Edar Receptor / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Male
  • Pakistan
  • Pedigree

Substances

  • EDAR protein, human
  • Edar Receptor