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Article

FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.

Experimental eye research - 1 Sept 2023

Wei Xing, Li Hui, Zhu Tian, Yao Fengxia, Sui Ruifang

Abstract excerpt

FDXR: associated disease is characterized by optic atrophy, acoustic neuropathy, and developmental delays. This study evaluated the ocular phenotypes and genetic features of patients with biallelic FDXR variants. Five individuals from unrelated non-consanguineous Chinese families with biallelic FDXR variants were identified using whole exome sequencing, Sanger sequencing, and co-segregation validation. In...

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Identifiers

PMID: 37481223
DOI: 10.1016/j.exer.2023.109600

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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