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Article

Dystrophic epidermolysis bullosa characterized by mucosal lesions in a Chinese familial case with a novel compound heterozygous mutation of COL7A1.

The Journal of dermatology - 1 Dec 2024

Lan Qingying, Hua Hong, Zhou Peiru

Abstract excerpt

Dystrophic epidermolysis bullosa (DEB) is a rare, but severe, subtype of epidermolysis bullosa. It is characterized mainly by blisters and miliary rashes of the skin, while oral mucosa-dominated cases are extremely rare. Here, we report the characteristics of oral mucosa lesions in a Chinese familial case of DEB with a novel compound heterozygous COL7A1 mutation. We further analyzed the genetic and molecular...

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Identifiers

PMID: 39039807
DOI: 10.1111/1346-8138.17397

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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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