| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6078422 | Journal of Investigative Dermatology | 2012 | 4 Pages |
Abstract
In this issue, Lai-Cheong et al. report a patient with Kindler syndrome who showed revertant mosaicism: a patch of normal-looking skin attributable to a reverse mutation. The molecular basis of the reverted patch appeared to be the deletion of a duplicated cytosine, thus restoring the reading frame of FERMT1 transcripts. This finding further pushes the frontier of revertant mosaicism, a phenomenon of spontaneous gene repair, which can be seen with the naked eye in skin.
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Authors
Marcel F. Jonkman, Anna M.G. Pasmooij,