Coincident two mutations and one single nucleotide polymorphism of the PTCH1 gene in a family with naevoid basal cell carcinoma syndrome

Acta Derm Venereol. 2008;88(6):635-6. doi: 10.2340/00015555-0524.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Aged
  • Basal Cell Nevus Syndrome / genetics*
  • Child, Preschool
  • Female
  • Humans
  • Immunohistochemistry
  • Mutation*
  • Patched Receptors
  • Patched-1 Receptor
  • Polymorphism, Single Nucleotide*
  • Receptors, Cell Surface / genetics*

Substances

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