Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa

Marco Castori, Giovanna Floriddia, Elisa Pisaneschi, Claudia Covaciu, Mauro Paradisi, Isabella Torrente, Daniele Castiglia

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)58-61
Number of pages4
JournalJournal of Dermatological Science
Issue number1
Publication statusPublished - Jul 2008


  • Herlitz disease
  • Laminin 332
  • Mendelian recessive outlaws
  • Uniparental disomy
  • UPD

ASJC Scopus subject areas

  • Dermatology

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