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Article

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.

Journal of medical genetics - 1 Feb 2022

Pingault Veronique, Zerad Lisa, Bertani-Torres William, Bondurand Nadege

Abstract excerpt

SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to cell type specification and differentiation of various lineages. 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...

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Identifiers

PMID: 34667088
DOI: 10.1136/jmedgenet-2021-108105
PMCID: PMC8788258

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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