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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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Clinical findings in patients with JUP-associated spectrum of skin fragility. Patient 1 (upper panel): A 2.5-year-old male manifested with trauma-induced blisters and erosions of the skin; perioral, axillary, plantar, and antecubital fissures; plantar hyperkeratosis; and absence of hair on his scalp. Patient 2 (lower panel): A 22-year-old female showed trauma-induced blisters and erosions; hyperkeratosis of palms, soles, knees and elbows; joint contractures of fingers; and absence of hair on her scalp.