Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida

Outcomes of genetic testing for Usher syndrome in a diverse population cohort from South Florida

Abstract Background Usher syndrome (USH) is the leading genetic cause of congenital deaf blindness worldwide. USH is an autosomal recessive disorder clinically characterized by partial or complete congenital sensorineural hearing loss followed by progressive vision loss due to retinitis pigmentosa....

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Main Authors: Zachary J. Cromar, Ryan Chen, Tamara Juvier Riesgo, Denise Yan, Lindsay Dawn Verma, Zhengyi Chen, Susan H. Blanton, Byron L. Lam, Xue Zhong Liu
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Human Genomics
Subjects:
Usher syndrome
Deafness
Blindness
Minorities
Retinitis pigmentosa
Online Access:https://doi.org/10.1186/s40246-025-00775-0
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