A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies

J Invest Dermatol. 2023 Jan;143(1):173-176.e3. doi: 10.1016/j.jid.2022.07.010. Epub 2022 Aug 1.
No abstract available

Publication types

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

MeSH terms

  • Hair / abnormalities
  • Hair Diseases* / diagnosis
  • Hair Diseases* / genetics
  • Homozygote
  • Humans
  • Mutation, Missense
  • Pedigree
  • Phenotype

Substances

  • KRT25 protein, human