Five new homozygous mutations in the KIND1 gene in Kindler syndrome

J Invest Dermatol. 2007 Sep;127(9):2268-70. doi: 10.1038/sj.jid.5700830. Epub 2007 Apr 26.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Homozygote*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Photosensitivity Disorders / genetics*
  • Photosensitivity Disorders / pathology
  • Skin Diseases / genetics*
  • Syndrome

Substances

  • FERMT1 protein, human
  • Membrane Proteins
  • Neoplasm Proteins

Associated data

  • OMIM/173650