A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome

Br J Dermatol. 2006 Nov;155(5):1067-9. doi: 10.1111/j.1365-2133.2006.07449.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Child
  • DNA Mutational Analysis
  • Facial Neoplasms / genetics*
  • Facial Neoplasms / pathology
  • Female
  • Fibroma / genetics
  • Fibroma / pathology
  • Germ-Line Mutation*
  • Humans
  • Male
  • Neoplastic Syndromes, Hereditary / genetics*
  • Pedigree
  • Proteins / genetics*
  • Proto-Oncogene Proteins / genetics*
  • Skin Diseases, Genetic / genetics
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Tumor Suppressor Proteins / genetics*

Substances

  • FLCN protein, human
  • Proteins
  • Proto-Oncogene Proteins
  • Tumor Suppressor Proteins