Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms

• Asıl Yazarlar: Hui Zhang (Yazar), Jian Gao (Yazar), Hanjun Wang (Yazar), Mengli Liu (Yazar), Shuangshuang Lu (Yazar), Hongen Xu (Yazar), Wenxue Tang (Yazar), Guoxi Zheng (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2024-04-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Objective Branchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including hearing loss (sensorineural, conductive, or mixed), structural abnormalities affecting the outer, middle, and inner ear, branchial fistulas or...