Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair

J Invest Dermatol. 2018 Apr;138(4):984-987. doi: 10.1016/j.jid.2017.10.031. Epub 2017 Nov 11.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Biopsy
  • DNA / genetics*
  • DNA Mutational Analysis
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Intracellular Signaling Peptides and Proteins / metabolism
  • Keratoderma, Palmoplantar / diagnosis
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / metabolism
  • Mutation*
  • Pedigree
  • Scalp
  • Skin / metabolism
  • Skin / pathology

Substances

  • FAM83G protein, human
  • Intracellular Signaling Peptides and Proteins
  • DNA