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The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification

Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are currently used to reduce the burden of hearing loss in severe-to-profoundly deaf patients, but many promising treatments including gene,...

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Detalles Bibliográficos
Autores principales: Delmaghani, Sedigheh, El-Amraoui, Aziz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034986/
https://www.ncbi.nlm.nih.gov/pubmed/35353227
http://dx.doi.org/10.1007/s00439-022-02448-7