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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Главные авторы:	Zachary J. Cromar, Ryan Chen, Tamara Juvier Riesgo, Denise Yan, Lindsay Dawn Verma, Zhengyi Chen, Susan H. Blanton, Byron L. Lam, Xue Zhong Liu
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2025-06-01
Серии:	Human Genomics
Предметы:	Usher syndrome Deafness Blindness Minorities Retinitis pigmentosa
Online-ссылка:	https://doi.org/10.1186/s40246-025-00775-0
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