A novel missense mutation in the PTCH1 gene in a premature case of nevoid basal cell carcinoma syndrome

Eur J Dermatol. 2009 May-Jun;19(3):262-3. doi: 10.1684/ejd.2009.0627. Epub 2009 Feb 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Basal Cell Nevus Syndrome / diagnosis
  • Basal Cell Nevus Syndrome / genetics*
  • Female
  • Foot / pathology
  • Genes, Neoplasm / genetics
  • Hand / pathology
  • Humans
  • Mutation, Missense*
  • Patched Receptors
  • Patched-1 Receptor
  • Receptors, Cell Surface / genetics*
  • Skin / pathology
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / genetics*
  • Young Adult

Substances

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