Unusual skin manifestations in a patient with menkes disease

Am J Med Genet A. 2016 Nov;170(11):3039-3040. doi: 10.1002/ajmg.a.37696.
No abstract available

Keywords: ATP7A gene; Menke disease; denovo mutation.

Publication types

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

MeSH terms

  • Humans
  • Infant
  • Male
  • Menkes Kinky Hair Syndrome / genetics
  • Menkes Kinky Hair Syndrome / pathology*
  • Skin / pathology*