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Article

Genotype-phenotype correlation in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.

Acta dermato-venereologica - 1 Jan 2012

Jiang Wei, Sun Ting-ting, Lei Peng-cheng, Zhu Xue-jun

Abstract excerpt

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare variant of dystrophic epidermolysis bullosa (DEB) due to dominant or recessive mutations in the COL7A1 gene. More than 40 mutations in COL7A1 have been described in DEB-Pr. The aim of this study was to understand the genotype-phenotype correlation in Chinese patients with DEB-Pr. Three Chinese families with typical clinical features of DEB-Pr were...

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Identifiers

PMID: 21879237
DOI: 10.2340/00015555-1178

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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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