A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome

Br J Dermatol. 2008 Jun;158(6):1375-7. doi: 10.1111/j.1365-2133.2008.08553.x. Epub 2008 Apr 10.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Blister / congenital
  • Blister / pathology
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Neoplasm Proteins / genetics*
  • Pedigree
  • Phenotype
  • Photosensitivity Disorders / congenital
  • Photosensitivity Disorders / genetics*
  • Siblings
  • Skin Diseases, Genetic / diagnosis*
  • Syndrome
  • Turkey

Substances

  • FERMT1 protein, human
  • Membrane Proteins
  • Neoplasm Proteins