Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa

Acta Derm Venereol. 2012 Nov;92(6):695-6. doi: 10.2340/00015555-1341.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amelogenesis / genetics*
  • DNA Mutational Analysis
  • Dental Enamel / abnormalities*
  • Dental Enamel Hypoplasia / genetics*
  • Dental Enamel Hypoplasia / pathology
  • Epidermolysis Bullosa, Junctional / genetics*
  • Epidermolysis Bullosa, Junctional / pathology
  • Female
  • Genetic Predisposition to Disease
  • Haploinsufficiency
  • Humans
  • Laminin / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Pedigree
  • Phenotype
  • Young Adult

Substances

  • Laminin
  • laminin alpha 3