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

Gudmundsson S, Wilbe M, Ekvall S, Ameur A, Cahill N, Alexandrov LB, Virtanen M, Hellström Pigg M, Vahlquist A, Törmä H, Bondeson ML

Hum Mol Genet. 26 (6) 1070-1077 [2017-03-15; online 2017-02-01]

Bioinformatics Compute and Storage [Service]

Clinical Genomics Uppsala [Collaborative]

NGI Uppsala (Uppsala Genome Center) [Collaborative]

PLA and Single Cell Proteomics [Service]

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PubMed 28158657

DOI 10.1093/hmg/ddx017

Crossref 10.1093/hmg/ddx017