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Article

Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.

The Journal of investigative dermatology - 1 Oct 2010

Pasmooij Anna M G, Garcia Marta, Escamez Maria J, Nijenhuis A Miranda, Azon Antoni, Cuadrado-Corrales Natividad, Jonkman Marcel F, Del Rio Marcela

Abstract excerpt

Despite the high incidence of revertant mosaicism (35%) in patients with the genetic skin disease epidermolysis bullosa (EB) due to correcting mutations in the genes COL17A1 and LAMB3, revertant mosaicism has not been described for COL7A1 until recently. Mutations in COL7A1 are responsible for the most devastating form of EB in adults, which is characterized by cocooned "mitten" deformities of the hands. This...

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Source

Identifiers

PMID: 20574443
DOI: 10.1038/jid.2010.163

Genes

LAMB3

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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