Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome
收藏NIAID Data Ecosystem2026-05-02 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP392068
下载链接
链接失效反馈官方服务：
资源简介：
Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by branchial arch anomalies, hearing loss and kidney defects. Mutations in the human EYA1 gene have been reported associated with BOR syndrome. Here we identified that a novel variant
创建时间：
2024-08-15
