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Article

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.

European journal of medical genetics - 1 Sept 2021

Moldenæs Marika F, Rendtorff Nanna D, Hindbæk Lone S, Tørring Pernille M, Nilssen Øivind, Tranebjærg Lisbeth

Abstract excerpt

The SRY-related HMG box gene 10 (SOX10), located on 22q13.1, encodes a member of the SOX family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate and differentiation. SOX10 is one of the six causal genes for Waardenburg syndrome, which is a dominantly inherited auditory-pigmentary disorder characterized by sensorineural hearing impairment and...

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Identifiers

PMID: 34171448
DOI: 10.1016/j.ejmg.2021.104265

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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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