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A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities

BACKGROUND: The pathogenic variant, POU class 4 transcription factor 3 (POU4F3), is reported to cause autosomal dominant nonsyndromic hearing loss (ADNSHL). Previously, we have examined a four-generation midfrequency sensorineural hearing loss (MFSNHL) family (no. 6126) and established POU4F3 c.602T...

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Detalles Bibliográficos
Autores principales: Bai, Dan, Zhang, Xudong, Li, Yu, Ni, Jing, Lan, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238589/
https://www.ncbi.nlm.nih.gov/pubmed/34250087
http://dx.doi.org/10.1155/2021/5574136