New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene

Abstract Background Karyomegalic interstitial nephritis (KIN) is a rare disease entity first described by Burry in 1974. The term KIN was introduced by Mihatsch et al. in 1979. KIN is characterized by chronic tubulointerstitial nephritis associated with enlarged tubular epithelial cell nuclei, which...

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Bibliographic Details
Main Authors: Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Medical Genomics
Subjects:
Karyomegalic interstitial nephritis
Chronic tubulointerstitial nephritis
FAN1 gene
Frameshift variants
Online Access:https://doi.org/10.1186/s12920-021-01009-7

Internet

https://doi.org/10.1186/s12920-021-01009-7

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