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

AuthorsMatthias Titeux, Audrey Décha, Nathalie Pironon, Laure Tonasso, Géraldine Gasc, José Enrique Mejía, Catherine Prost-Squarcioni, Alain Hovnanian
JournalThe Journal of investigative dermatology (J Invest Dermatol) Vol. 131 Issue 10 Pg. 2131-3 (Oct 2011) ISSN: 1523-1747 [Electronic] United States
PMID21734713 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)
Chemical References
  • Keratin-14
  • Keratin-15
  • Keratin-5
Topics
  • 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

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