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Disease: Epidermolysis bullosa- lethal acantholytic

  • A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma
  • Extensive acantholysis as the major histological feature of a severe case of Dowling Meara-epidermolysis bullosa simplex: a reappraisal of acantholysis in the newborn
  • Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa
  • Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes
  • Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel <em>DSP</em> Mutations
  • Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations
  • Lethal acantholytic epidermolysis bullosa
  • Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart
  • Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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