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 disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum.
Wei X et al.
Experimental Eye Research, 2023
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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S12.xls › Sheet1
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
Jurkute N et al.
Investigative Ophthalmology & Visual Science, 2021
33938912 (PubMed )
Supplement: iovs-62-6-2_s003.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
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y et al.
Human Molecular Genetics, 2018
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y et al.
Human Molecular Genetics, 2017
29040572 (PubMed )
Supplement: ddx377_supplementary_data_09282017.pdf
Effects of β-Adrenoceptor and Catechol-O-Methyl-Transferase (COMT) Polymorphism on Postoperative Outcome in Cardiac Surgery Patients.
Dhein S et al.
Medical Science Monitor Basic Research, 2017
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