Clinical application of next-generation sequencing for the diagnosis of segmental neurofibromatosis

J Dermatol Sci. 2017 Dec;88(3):370-372. doi: 10.1016/j.jdermsci.2017.07.014. Epub 2017 Jul 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Biopsy
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Middle Aged
  • Neurofibromatoses / diagnosis*
  • Neurofibromatoses / genetics
  • Neurofibromatoses / pathology
  • Neurofibromin 1 / genetics*
  • Pedigree
  • Skin / pathology

Substances

  • NF1 protein, human
  • Neurofibromin 1

Supplementary concepts

  • Neurofibromatosis type 5