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
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
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.
Zhang W et al.
Biophysics Reports, 2021
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.
Stenton SL et al.
Human Mutation, 2021
Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.
Maio N et al.
Trends in Biochemical Sciences, 2020
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.
Paul A et al.
American Journal of Human Genetics, 2017
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