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Article

[Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].

Ugeskrift for laeger - 27 Mar 2000

Sørensen C B, Ladekjaer-Mikkelsen A S, Andresen B S, Brandrup F, Veien N K, Buus S K, Anton-Lamprecht I, Kruse T, Jensen P K, Eiberg H, Bolund L, Gregersen N

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant inherited skin disorders caused by mutations in the keratin genes K5 or K14. We examined five Danish families with EBS-Weber-Cockayne (WC) or EBS-Koebner (K) and two sporadic cases of EBS-Dowling-Meara (DM) in order to investigate the mutational spectrum and evaluate the genotype-phenotype correlation in Danish patients. Three new K14 mutations,...

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PMID: 10765693

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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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