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. 2020 Dec 10;10:21622. doi: 10.1038/s41598-020-78344-9

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Immunofluorescence and transmission electron microscopy analysis of skin biopsy from Patient 2. IF staining for junction plakoglobin (encoded by JUP) shows complete absence of the protein in the epidermis of the patient (left lower panel) compared to pan-epidermal keratinocyte cell membrane labeling in an unrelated individual’s healthy skin (left upper panel). Ultrastructurally (right panel), desmosomes appear somewhat small with pinching off within the intercellular desmosomal plaques (arrows) and widening of the intercellular spaces between adjacent keratinocytes (asterisks). For technical details see reference⁴⁴.