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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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Med Genomics
Auteurs principaux: 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
Langue:Inglês
Publié: BioMed Central 2021
Sujets:
Research Article
Accès en ligne: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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