Associated Papers
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy.
Clince M et al.
Kidney International, 2026
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 2025
New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.
Rejeb I et al.
Bmc Medical Genomics, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32939031 (PubMed )
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Case report: a 58 -year -old man with small kidneys and elevated liver enzymes.
Dash J et al.
Bmc Nephrology, 2020
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Zhou W et al.
Nature Genetics, 2012
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