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

• Main Authors: Hui Zhang (Author), Jian Gao (Author), Hanjun Wang (Author), Mengli Liu (Author), Shuangshuang Lu (Author), Hongen Xu (Author), Wenxue Tang (Author), Guoxi Zheng (Author)
• Format: Knjiga
• Izdano: BMC, 2024-04-01T00:00:00Z.
• Teme: article
• Online dostop: 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...