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Article

Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.

Pediatric dermatology - 1 May 2018

Alkhalifah Azzam, Chiaverini Christine, Charlesworth Alexandra, Has Cristina, Lacour Jean-Philippe

Abstract excerpt

Epidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the...

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Source

Identifiers

PMID: 29574966
DOI: 10.1111/pde.13443

Genes

KLHL24
KRT14
KRT5

Provenance

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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Burnlike scars: A sign suggestive of KLHL24-related epidermolysis bullosa simplex.PMID 29574966Read ↗

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