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SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N. Pingault V, et al. J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19. J Med Genet. 2022. PMID: 34667088 Free PMC article. Review.
The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations occurring within and around SOX10 cause Waardenburg syndrome type 4. Since then, heterozygous mutations have bee …
The first clue that SOX10 is essential for development, especially in the neural crest, came with the discovery that heterozygous mutations …
Pediatric case report: clinical profile of a patient with PCWH with p.Q377X nonsense mutation in the SOX10 gene.
Oshimo T, Fukai K, Abe Y, Hozumi Y, Yokoi T, Tanaka A, Yamanishi K, Ishii M, Suzuki T. Oshimo T, et al. J Dermatol. 2012 Dec;39(12):1022-5. doi: 10.1111/j.1346-8138.2012.01671.x. Epub 2012 Sep 11. J Dermatol. 2012. PMID: 22963253 Review.
We also reviewed and summarized the outcomes of 23 patients with Waardenburg syndrome type 4, PCWH and Yemenite deaf-blind hypopigmentation syndrome, in which SOX10 mutations were identified. ...
We also reviewed and summarized the outcomes of 23 patients with Waardenburg syndrome type 4, PCWH and Yemenite …