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

doi:10.1016/j.jdermsci.2008.02.006

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 journal › Article

Original language	English
Pages (from-to)	58-61
Number of pages	4
Journal	Journal of Dermatological Science
Volume	51
Issue number	1
DOIs	https://doi.org/10.1016/j.jdermsci.2008.02.006
Publication status	Published - Jul 2008

Keywords

Herlitz disease
Laminin 332
Mendelian recessive outlaws
Uniparental disomy
UPD

ASJC Scopus subject areas

Dermatology

Cite this

Castori, M., Floriddia, G., Pisaneschi, E., Covaciu, C., Paradisi, M., Torrente, I., & Castiglia, D. (2008). Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. Journal of Dermatological Science, 51(1), 58-61. https://doi.org/10.1016/j.jdermsci.2008.02.006

Complete maternal isodisomy causing reduction to homozygosity for a novel LAMB3 mutation in Herlitz junctional epidermolysis bullosa. / Castori, Marco; Floriddia, Giovanna; Pisaneschi, Elisa; Covaciu, Claudia; Paradisi, Mauro; Torrente, Isabella; Castiglia, Daniele.

In: Journal of Dermatological Science, Vol. 51, No. 1, 07.2008, p. 58-61.

Research output: Contribution to journal › Article

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Access to Document

10.1016/j.jdermsci.2008.02.006