Associated Papers
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E et al.
Jci Insight, 2024
38885337 (PubMed )
Supplement: jciinsight-9-179071-s025.pdf
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 disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
Masnada S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
37046037 (PubMed )
Supplement: 10072_2023_6790_MOESM1_ESM.xlsx › Foglio1
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
Novel biallelic compound heterozygous mutations in FDXR cause optic atrophy in a young female patient: a case report.
Song SJ et al.
International Journal of Ophthalmology, 2021
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