A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome

J Invest Dermatol. 2011 Oct;131(10):2131-3. doi: 10.1038/jid.2011.166. Epub 2011 Jul 7.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Biopsy
  • Ectodermal Dysplasia / genetics*
  • Epidermolysis Bullosa Simplex / genetics*
  • Family Health
  • Haploinsufficiency
  • Humans
  • Hypohidrosis / genetics*
  • Keratin-14 / genetics*
  • Keratin-15 / genetics
  • Keratin-5 / genetics
  • Keratinocytes / cytology
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Pedigree

Substances

  • Keratin-14
  • Keratin-15
  • Keratin-5

Supplementary concepts

  • Naegeli syndrome