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

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 leads t...

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Bibliografiske detaljer
Udgivet i:BMC Med Genomics
Main Authors: Rejeb, Imen, Jerbi, Mouna, Jilani, Houweyda, Gaied, Hanène, Elaribi, Yasmina, Hizem, Syrine, Aoudia, Raja, Hedri, Hafedh, Zaied, Chiraz, Abid, Salwa, Bacha, Hassen, BenAbdallah, Taieb, BenJemaa, Lamia, Goucha, Rim
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8201669/
https://ncbi.nlm.nih.gov/pubmed/34126972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01009-7
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