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Article

Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.

Discovery medicine - 1 Sept 2012

Pasmooij Anna M G, Jonkman Marcel F, Uitto Jouni

Abstract excerpt

Revertant mosaicism (RM) refers to the co-existence of cells carrying disease-causing mutations with cells in which the inherited mutation is genetically corrected by a spontaneous event. It has been discovered in an increasing number of heritable skin diseases: ichthyosis with confetti and different subtypes of epidermolysis bullosa. This "natural gene therapy" phenomenon manifests as normal appearing skin areas...

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PMID: 23021371

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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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