Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses

Genotype-phenotype correlations add value to the management of families with hereditary hearing loss (HL), where age-related typical audiograms (ARTAs) are generated from cross-sectional regression equations and used to predict the audiogram phenotype across the lifespan. A seven-generation kindred...

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Detalles Bibliográficos
Autores principales: Singh, Sushma, Penney, Cindy, Griffin, Anne, Woodland, Geoffrey, Werdyani, Salem, Benteau, Tammy A., Abdelfatah, Nelly, Squires, Jessica, King, Beverly, Houston, Jim, Dyer, Matthew J., Roslin, Nicole M., Vincent, Daniel, Marquis, Pascale, O’Rielly, Darren D., Hodgkinson, Kathy, Burt, Taylor, Baker, Ashley, Stanton, Susan G., Young, Terry-Lynn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10325993/
https://www.ncbi.nlm.nih.gov/pubmed/37072551
http://dx.doi.org/10.1038/s41431-023-01358-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10325993/
https://www.ncbi.nlm.nih.gov/pubmed/37072551
http://dx.doi.org/10.1038/s41431-023-01358-0

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