Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

J Eur Acad Dermatol Venereol. 2015 May;29(5):1032-4. doi: 10.1111/jdv.12457. Epub 2014 Mar 18.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Ectodermal Dysplasia 3, Anhidrotic / genetics*
  • Edar Receptor / genetics*
  • Female
  • Frameshift Mutation*
  • Genotype
  • Humans
  • Male
  • Pedigree
  • Phenotype*

Substances

  • EDAR protein, human
  • Edar Receptor