Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies

J Invest Dermatol. 2014 Oct;134(10):2658-2660. doi: 10.1038/jid.2014.195. Epub 2014 Apr 21.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Child, Preschool
  • Female
  • GTP Phosphohydrolases / genetics*
  • Genetic Predisposition to Disease / genetics
  • Genotype*
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Mutation / genetics
  • Nevus, Pigmented / congenital
  • Nevus, Pigmented / genetics*
  • Nevus, Pigmented / pathology
  • Phenotype*
  • Sequence Analysis, DNA*
  • Skin / pathology
  • Skin Neoplasms / congenital
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology

Substances

  • Membrane Proteins
  • GTP Phosphohydrolases
  • NRAS protein, human