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Page 1

A De Novo Mutation in SOX10 in a Chinese Boy with Waardenburg Syndrome Type 2.

Guo M, Li Q, Jiang C, Li S, Ruan B. Guo M, et al. J Int Adv Otol. 2023 Jun;19(3):255-259. doi: 10.5152/iao.2023.22745. J Int Adv Otol. 2023. PMID: 37272645 Free PMC article.

Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by SOX10 gene deletion.

Wang SQ, Chen Y, Luo KH, Shi NJ, Xiao KL, Cui ZH, Zeng TS, Li HQ. Wang SQ, et al. Yi Chuan. 2022 Dec 20;44(12):1158-1166. doi: 10.16288/j.yczz.22-161. Yi Chuan. 2022. PMID: 36927561

A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2.

Li Y, Xu Y, Li G, Chen K, Yu H, Gao J, Tian W, Liu Y, Liu P, Zhang L, Zhang Z. Li Y, et al. Mol Syndromol. 2021 Jul;12(4):244-249. doi: 10.1159/000513607. Epub 2021 Jun 14. Mol Syndromol. 2021. PMID: 34421503 Free PMC article.

Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2.

Liu XW, Wang SY, Xing ZK, Zhu YM, Ding WJ, Duan L, Cui X, Xu BC, Li SJ, Guo YF. Liu XW, et al. J Int Med Res. 2020 Nov;48(11):300060520967540. doi: 10.1177/0300060520967540. J Int Med Res. 2020. PMID: 33251892 Free PMC article.

[Clinical and genetic investigation of families with Waardenburg syndrome type 2].

Chen HS, Liao XB, Liu YL, He CF, Zhang H, Jiang L, Feng Y, Mei LY. Chen HS, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Dec;30(24):1946-1949. doi: 10.13201/j.issn.1001-1781.2016.24.011. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016. PMID: 29798271 Chinese.

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

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Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.

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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

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Waardenburg syndrome type 2: an orthodontic perspective.

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