An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction

Br J Dermatol. 2018 Apr;178(4):e265-e267. doi: 10.1111/bjd.16276. Epub 2018 Feb 23.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Consanguinity
  • Ectodermal Dysplasia / genetics*
  • Female
  • Hair / abnormalities*
  • Heterozygote
  • Homeodomain Proteins / genetics*
  • Homozygote
  • Humans
  • Lacrimal Duct Obstruction / genetics*
  • Male
  • Mutagenesis, Insertional / genetics*
  • Nails, Malformed / genetics*
  • Pedigree

Substances

  • HOXC13 protein, human
  • Homeodomain Proteins