Late onset of skin manifestations in Birt-Hogg-Dubé syndrome with FLCN mutation p.W260X

Acta Derm Venereol. 2012 Mar;92(2):187-8. doi: 10.2340/00015555-1236.
No abstract available

Publication types

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

MeSH terms

  • Birt-Hogg-Dube Syndrome / genetics*
  • Codon, Nonsense
  • Cysts / diagnostic imaging
  • Humans
  • Kidney Neoplasms / diagnostic imaging
  • Lipoma / diagnostic imaging
  • Lung Diseases / diagnostic imaging
  • Male
  • Middle Aged
  • Proto-Oncogene Proteins / genetics*
  • Radiography
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Tumor Suppressor Proteins / genetics*

Substances

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