Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix

J Dermatol. 2018 Nov;45(11):e298-e300. doi: 10.1111/1346-8138.14339. Epub 2018 Apr 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Asian People / genetics
  • DNA Mutational Analysis
  • Female
  • Hair / pathology
  • Humans
  • Infant
  • Keratins, Hair-Specific / genetics*
  • Keratins, Type II / genetics*
  • Male
  • Monilethrix / genetics*
  • Monilethrix / pathology
  • Mutation, Missense
  • Pedigree

Substances

  • KRT86 protein, human
  • Keratins, Hair-Specific
  • Keratins, Type II