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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
Revertant mosaicism (RM) is a naturally occurring phenomenon where the pathogenic effect of a germline mutation is corrected by a second somatic event. Development of healthy-looking skin due to RM has been observed in patients with various inherited skin disorders, but not in connexin-related disea...
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| Pubblicato in: | Hum Mol Genet |
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| Autori principali: | , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Oxford University Press
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5409067/ https://ncbi.nlm.nih.gov/pubmed/28158657 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx017 |
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