Associated Papers
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E et al.
Jci Insight, 2024
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.
Campbell T et al.
Genetics in Medicine Open, 2024
FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population.
Yi S et al.
Genes, 2023
37107710 (PubMed )
Supplement: genes-14-00952-s001.zip › YiST-FDXR-Supplementary_Table_S3.pdf
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Stenton SL et al.
Human Mutation, 2021
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