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Article

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.

Human molecular genetics - 15 Mar 2017

Gudmundsson Sanna, Wilbe Maria, Ekvall Sara, Ameur Adam, Cahill Nicola, Alexandrov Ludmil B, Virtanen Marie, Hellström Pigg Maritta, Vahlquist Anders, Törmä Hans, Bondeson Marie-Louise

Abstract excerpt

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 disease. We aimed to clarify the underlying molecular mechanisms of suspected RM in the skin of a patient with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28158657
DOI: 10.1093/hmg/ddx017
PMCID: PMC5409067

Genes

GJB2

Variants

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