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 journalArticle

Original languageEnglish
Pages (from-to)58-61
Number of pages4
JournalJournal of Dermatological Science
Volume51
Issue number1
DOIs
Publication statusPublished - Jul 2008

Keywords

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

ASJC Scopus subject areas

  • Dermatology

Cite this