A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

J Invest Dermatol. 2018 Jan;138(1):230-233. doi: 10.1016/j.jid.2017.08.035. Epub 2017 Sep 9.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Motifs / genetics
  • Exome Sequencing
  • Female
  • Hair Diseases / congenital*
  • Hair Diseases / genetics
  • Humans
  • Hypotrichosis / genetics*
  • Keratins, Hair-Specific / genetics*
  • Keratins, Type I / genetics*
  • Male
  • Mutation, Missense
  • Pedigree

Substances

  • KRT25 protein, human
  • Keratins, Hair-Specific
  • Keratins, Type I

Supplementary concepts

  • Woolly hair, congenital