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Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder

OBJECTIVES: The aim of this paper was to study the auditory phenotype of three related children with sensorineural hearing loss (2 sisters and their cousin) following genetic analysis revealing mutations in LOXHD1. METHODS: Genetic testing was conducted on three related children. They were assessed...

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Detalles Bibliográficos
Autores principales:	Morlet, T., Robbins, KM., Stabley, D., Holbrook, J., Sol-Church, K., O’Reilly, RC.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9307087/ https://www.ncbi.nlm.nih.gov/pubmed/35875410 http://dx.doi.org/10.1016/j.xocr.2021.100367

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