Article
The retinal phenotype of Usher syndrome: pathophysiological insights from animal models.
Comptes rendus biologies - 1 Mar 2014
El-Amraoui Aziz, Petit Christine
Abstract excerpt
The Usher syndrome (USH) is the most prevalent cause of inherited deaf-blindness. Three clinical subtypes, USH1-3, have been defined, and ten USH genes identified. The hearing impairment due to USH gene defects has been shown to result from improper organisation of the hair bundle, the sound receptive structure of sensory hair cells. In contrast, the cellular basis of the visual defect is less well understood as...
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