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Article

Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.

Human molecular genetics - 1 Oct 2001

Gache Y, Allegra M, Bodemer C, Pisani-Spadafora A, de Prost Y, Ortonne J P, Meneguzzi G

Abstract excerpt

Change of the clinical picture with aging is noted in some patients suffering from junctional epidermolysis bullosa (JEB), an inherited blistering disorder caused by extensive disadhesion of the epithelia. We have studied a patient born with severe JEB associated with absent expression of laminin 5. A remarkable reduction of the blistering tendency was observed with aging that correlated with a restored...

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Source

Identifiers

PMID: 11689492
DOI: 10.1093/hmg/10.21.2453

Genes

LAMB3

Variants

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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Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging.PMID 11689492Read ↗

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