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...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	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:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2021-06-01
Schriftenreihe:	BMC Medical Genomics
Schlagworte:	Karyomegalic interstitial nephritis Chronic tubulointerstitial nephritis FAN1 gene Frameshift variants
Online-Zugang:	https://doi.org/10.1186/s12920-021-01009-7
Tags:	Tag hinzufügen Keine Tags, Fügen Sie das erste Tag hinzu!