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A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss

BACKGROUND: Nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) is an uncommon form of hearing loss (HL) that typically affects frequencies at 2000 Hz and below. Heterozygous variants in the WFS1 gene at the DFNA6/14/38 locus are considered a common cause of LFSNHL. To date, 34 different...

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Detalles Bibliográficos
Autores principales: Ma, Jingyu, Wang, Rongrong, Zhang, Li, Wang, Shanshan, Tong, Shuqing, Bai, Xiaohui, Lu, Zhiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550458/
https://www.ncbi.nlm.nih.gov/pubmed/36225977
http://dx.doi.org/10.1155/2022/5068869