Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation

J Dermatol. 2012 Sep;39(9):817-9. doi: 10.1111/j.1346-8138.2012.01565.x. Epub 2012 May 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Asian People / genetics
  • China
  • Congenital Abnormalities / genetics*
  • Congenital Abnormalities / pathology
  • DNA Mutational Analysis
  • Ear / abnormalities
  • Ear / pathology
  • Ear Canal / abnormalities*
  • Female
  • Humans
  • Keratins, Hair-Specific / genetics*
  • Keratins, Type II / genetics*
  • Male
  • Monilethrix / genetics*
  • Monilethrix / pathology
  • Mutation
  • Pedigree

Substances

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

Supplementary concepts

  • Aural Atresia, Congenital