Visual Dermatology: Menkes Disease

J Cutan Med Surg. 2021 Mar-Apr;25(2):211. doi: 10.1177/1203475420932516. Epub 2020 Jun 5.
No abstract available

Keywords: hair shaft; menkes disease; pili torti.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Consanguinity
  • Copper-Transporting ATPases / genetics
  • Diagnosis, Differential
  • Humans
  • Male
  • Menkes Kinky Hair Syndrome / diagnosis*
  • Menkes Kinky Hair Syndrome / genetics
  • Mutation

Substances

  • ATP7A protein, human
  • Copper-Transporting ATPases