Somatic HRAS p.G12S mutation causes woolly hair and epidermal nevi

J Invest Dermatol. 2014 Apr;134(4):1149-1152. doi: 10.1038/jid.2013.430. Epub 2013 Oct 15.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adherens Junctions
  • Child
  • Exome
  • Female
  • Genes, ras*
  • Hair / metabolism*
  • Hair Diseases / genetics*
  • Hair Diseases / metabolism
  • Hair Follicle / pathology
  • Humans
  • Intermediate Filaments / metabolism
  • Mosaicism
  • Mutation
  • Nevus / genetics
  • Nevus / metabolism
  • Phenotype
  • Sequence Analysis, DNA
  • Signal Transduction
  • ras Proteins / genetics*
  • ras Proteins / metabolism*

Substances

  • ras Proteins

Supplementary concepts

  • Epidermal Nevus