FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population

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 sequencing dataset of 6397 families with different eye con...

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Detalles Bibliográficos
Autores principales: Yi, Shutong, Zheng, Yuxi, Yi, Zhen, Wang, Yingwei, Jiang, Yi, Ouyang, Jiamin, Li, Shiqiang, Xiao, Xueshan, Sun, Wenmin, Wang, Panfeng, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137360/
https://www.ncbi.nlm.nih.gov/pubmed/37107710
http://dx.doi.org/10.3390/genes14040952

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137360/
https://www.ncbi.nlm.nih.gov/pubmed/37107710
http://dx.doi.org/10.3390/genes14040952

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