QR Kod

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....

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Zachary J. Cromar, Ryan Chen, Tamara Juvier Riesgo, Denise Yan, Lindsay Dawn Verma, Zhengyi Chen, Susan H. Blanton, Byron L. Lam, Xue Zhong Liu
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMC 2025-06-01
Seri Bilgileri:Human Genomics
Konular:
Online Erişim:https://doi.org/10.1186/s40246-025-00775-0
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!