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Found 2 publications

A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.

Journal: BMC medical genomics
Published: August 11, 2021
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Summary: A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.

Condition: Usher Syndrome 2A
Journal: International journal of molecular sciences
Treatment Used: Ataluren
Number of Patients: 0
Published: December 18, 2019
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Summary: This study tested the safety and efficacy of using ataluren to treat patients with usher syndrome 2A.
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