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...

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Detalles Bibliográficos
Autores principales: Wang, Yanan, Chai, Yuqiong, Zhang, Pai, Zang, Weiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
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

Internet

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

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