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. 2021 Jul 15;12:705284. doi: 10.3389/fgene.2021.705284

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Copyright © 2021 Hu, Sun, Zhou, Yi, Tang, Yao, Tian, Xie, Luo, Wang, Liao, Xu and Zhou.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Representative images of skin biopsies. Electron microscopy of skin biopsies from the proband carrying R133S (A) and R607H (B), showing deposits of GOM (black arrow).