Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes

Br J Dermatol. 2008 Jan;158(1):163-7. doi: 10.1111/j.1365-2133.2007.08231.x. Epub 2007 Oct 26.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Ectodermal Dysplasia 1, Anhidrotic / genetics*
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / genetics*
  • Ectodysplasins / genetics*
  • Edar Receptor / genetics*
  • Female
  • Humans
  • India
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Pedigree
  • Sequence Alignment

Substances

  • EDA protein, human
  • EDAR protein, human
  • Ectodysplasins
  • Edar Receptor