Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia

J Invest Dermatol. 2010 Mar;130(3):892-5. doi: 10.1038/jid.2009.341. Epub 2009 Oct 29.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Ectodermal Dysplasia / genetics*
  • Female
  • Hair Diseases / genetics*
  • Humans
  • Keratins, Hair-Specific / genetics*
  • Keratins, Type II / genetics*
  • Male
  • Molecular Sequence Data
  • Nail Diseases / genetics*
  • Pedigree
  • Point Mutation*

Substances

  • KRT85 protein, human
  • Keratins, Hair-Specific
  • Keratins, Type II