Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa.
Castori
Marco
M
Floriddia
Giovanna
G
Pisaneschi
Elisa
E
Covaciu
Claudia
C
Paradisi
Mauro
M
Torrente
Isabella
I
Castiglia
Daniele
D
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
D015815:Cell Adhesion Molecules; D000097794:Kalinin