Article
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 25 Jan 2021
Klämbt Verena, Werth Max, Onuchic-Whitford Ana C, Getwan Maike, Kitzler Thomas M, Buerger Florian, Mao Youying, Deutsch Konstantin, Mann Nina, Majmundar Amar J, Kaminski Michael M, Shen Tian, Schmidt-Ott Kai M, Shalaby Mohamed, El Desoky Sherif, Kari Jameela A, Shril Shirlee, Lienkamp Soeren S, Barasch Jonathan, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: An underlying monogenic cause of early-onset chronic kidney disease (CKD) can be detected in ∼20% of individuals. For many etiologies of CKD manifesting before 25 years of age, >200 monogenic causative genes have been identified to date, leading to the elucidation of mechanisms of renal pathogenesis. METHODS: In 51 families with echogenic kidneys and CKD, we performed whole-exome sequencing to...
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