A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14235
Abstract: Renal Fanconi syndrome (RFS) is a generalised disorder of the proximal convoluted tubule. Many genes have been associated with RFS including those that cause systemic disorders such as cystinosis, as well as isolated RFS. We… read more here.
Keywords: gatm; renal fanconi; novel variant; kidney ... See more keywords