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Article

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

Human genetics - 1 Apr 2022

Delmaghani Sedigheh, El-Amraoui Aziz

Abstract excerpt

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, cell, and drug therapies to restore the native function of the inner ear and retinal sensory cells are under...

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Share to Ear Surgery and Otitis Media
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Source

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Identifiers

PMID: 35353227
DOI: 10.1007/s00439-022-02448-7
PMCID: PMC9034986

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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