- Article
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population
- Shutong Yi,
- Yuxi Zheng,
- Zhen Yi,
- Yingwei Wang,
- Yi Jiang,
- Jiamin Ouyang,
- Shiqiang Li,
- Xueshan Xiao,
- Wenmin Sun and
- Panfeng Wang
- + 1 author
Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome sequenci...

