Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement

Acta Derm Venereol. 2007;87(6):563-5. doi: 10.2340/00015555-0314.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • DNA Mutational Analysis
  • Esophageal Diseases / genetics*
  • Esophageal Diseases / pathology
  • Female
  • Genital Diseases, Female / genetics*
  • Genital Diseases, Female / pathology
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mucous Membrane / pathology
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Photosensitivity Disorders / genetics
  • Polymerase Chain Reaction
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / pathology
  • Skin Diseases, Vesiculobullous / genetics*
  • Skin Diseases, Vesiculobullous / pathology
  • Syndrome

Substances

  • FERMT1 protein, human
  • Membrane Proteins
  • Neoplasm Proteins