title: Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Giovanna
authors.initials: G
authors.lastname: Floriddia
authors.forename: Elisa
authors.initials: E
authors.lastname: Pisaneschi
authors.forename: Claudia
authors.initials: C
authors.lastname: Covaciu
authors.forename: Mauro
authors.initials: M
authors.lastname: Paradisi
authors.forename: Isabella
authors.initials: I
authors.lastname: Torrente
authors.forename: Daniele
authors.initials: D
authors.lastname: Castiglia
mesh_terms: D000328:Adult; D015815:Cell Adhesion Molecules / Q000235:genetics*; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D024182:Uniparental Disomy; D000097794:Kalinin
chemical_list: D015815:Cell Adhesion Molecules; D000097794:Kalinin