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Article

Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes.

Experimental dermatology - 1 Oct 2019

Has Cristina, Fischer Judith

Abstract excerpt

Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic...

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PMID: 29679399
DOI: 10.1111/exd.13668

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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