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Article

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

The Journal of investigative dermatology - 1 Dec 2002

Gardella Rita, Castiglia Daniele, Posteraro Patrizia, Bernardini Silvia, Zoppi Nicoletta, Paradisi Mauro, Tadini Gianluca, Barlati Sergio, McGrath John A, Zambruno Giovanna, Colombi Marina

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is a rare skin disorder that is clinically heterogeneous and is transmitted either in dominant (DDEB) or recessive (RDEB) mode. Nevertheless, all variants of DEB are caused by mutations in type VII collagen gene (COL7A1). We report an analysis of COL7A1 mutations in 51 Italian DEB patients, 27 affected with Hallopeau-Siemens RDEB, 19 with non Hallopeau-Siemens RDEB, two with...

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Source

Identifiers

PMID: 12485454
DOI: 10.1046/j.1523-1747.2002.19606.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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