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

Journal Article published 1 Feb 2017 in Human Molecular Genetics volume 26 issue 6 on pages 1070 to 1077

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