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Article

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.

The British journal of dermatology - 1 Dec 2011

Yuen W Y, Lemmink H H, van Dijk-Bos K K, Sinke R J, Jonkman M F

Abstract excerpt

BACKGROUND: Junctional epidermolysis bullosa, type Herlitz (JEB-H) is a lethal, autosomal recessive blistering disease caused by null mutations in the genes coding for the lamina lucida/densa adhesion protein laminin-332 (LAMB3, LAMA3 and LAMC2). OBJECTIVES: To present the diagnostic features and molecular analyses of all 22 patients with JEB-H in the Dutch Epidermolysis Bullosa Registry between 1988 and 2011,...

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Source

Identifiers

PMID: 21801158
DOI: 10.1111/j.1365-2133.2011.10553.x

Genes

LAMB3
LAMA3
LAMC2

Provenance

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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