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A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV
BACKGROUND: Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of sensorineural hearing loss and accumulated pigmentation in the skin, hair and iris. The syndrome is classified into four types (WS1, WS2, WS3, and WS4), each with different clinical phenotypes and un...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10294417/ https://www.ncbi.nlm.nih.gov/pubmed/37365589 http://dx.doi.org/10.1186/s12920-023-01572-1 |