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. 2024 Jun 6;19:226. doi: 10.1186/s13023-024-03220-y

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© The Author(s) 2024

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/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 6 — The common phenotypes of WS and the expression abundance of genes in ear tissues and brain tissues. (A) The heatmap showed the percentage of 24 common phenotypes in WS. (B) Tissue × stage expression matrix of SOX10, MITF, and PAX3 genes in ear tissues. MGI database only annotates the expression of MITF and PAX3 in the organ of Corti. Compared with PAX3 and MITF, SOX10 was widely and highly expressed in the organ of Corti, semicircular canal, inner ear vestibular component and otocyst. Data is from the MGI database [26]. (C) Violin plot showing gene expression levels of SOX10, MITF, and PAX3 in DCs, IHCs, and OHCs of c3HeB/FeJ mice. The expression level of SOX10 is higher than MITF and PAX3 in cochlear single cells. Data is from the MORL scRNA-Seq database [25]. (D) Line chart showing the expression level of SOX10, PAX3, and MITF in different brain tissues. SOX10 has a higher expression level than MITF and PAX3 in different brain tissues. The yellow, orange and blue lines denote pathogenic genes SOX10, MITF, and PAX3, respectively. Data is from the Human Protein Atlas database [27]