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Article

Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.

Pediatric dermatology - 1 Jan 2000

Kittridge Ashley, Patel Riddhi, Novoa Roberto, Tamburro Joan

Abstract excerpt

Herlitz junctional epidermolysis bullosa (H-JEB) is a rare, heritable mechanobullous disease that affects infants at birth and causes early death. This disease is primarily caused by compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin-332 (formerly laminin-5) protein. Here we report a case of H-JEB with a novel heterozygous mutation...

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Source

Identifiers

PMID: 23278291
DOI: 10.1111/pde.12018

Genes

LAMB3

Variants

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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Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.PMID 23278291Read ↗

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Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency.Semantic proximity Read ↗

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Junctional epidermolysis bullosa with extensive lung involvement in three patients with a LAMB3 Mutation.Semantic proximity Read ↗

Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes.Semantic proximity Read ↗

Molecular basis of non-lethal junctional epidermolysis bullosa: identification of a 38 basepair insertion and a splice site mutation in exon 14 of the LAMB3 gene.Semantic proximity Read ↗

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