A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma?

J Dermatol Sci. 2008 Aug;51(2):144-6. doi: 10.1016/j.jdermsci.2008.03.006. Epub 2008 Apr 23.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Asian People / genetics
  • Basal Cell Nevus Syndrome / ethnology
  • Basal Cell Nevus Syndrome / genetics*
  • Basal Cell Nevus Syndrome / pathology
  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Patched Receptors
  • Patched-1 Receptor
  • Pedigree
  • Receptors, Cell Surface / analysis
  • Receptors, Cell Surface / genetics*
  • Skin Neoplasms / ethnology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology

Substances

  • PTCH1 protein, human
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface