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Article

A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

Pediatric dermatology - 1 Jan 2000

Riedl Elisabeth, Klausegger Alfred, Bauer Johann W, Foedinger Dagmar, Kittler Harald

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) represents a group of inherited skin disorders characterized by sublamina densa blister formation. We resent the case of a 16-year old girl with DEB, who had a 10-year-history of recurrent pruritic skin lesions. Despite misleading biopsy results, the correct diagnosis was suspected by examination of other family members. Finally, mutational analysis revealed a novel glycine...

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Identifiers

PMID: 19250433
DOI: 10.1111/j.1525-1470.2008.00846.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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