A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end‐stage kidney disease

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 discuss the case of a 10‐year‐old female who presented with leg pain and ra...

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Detalles Bibliográficos
Autores principales: Seaby, Eleanor G., Turner, Steven, Bunyan, David J., Seyed‐Rezai, Fariba, Essex, Jonathan, Gilbert, Rodney D., Ennis, Sarah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092499/
https://www.ncbi.nlm.nih.gov/pubmed/36148635
http://dx.doi.org/10.1111/cge.14235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10092499/
https://www.ncbi.nlm.nih.gov/pubmed/36148635
http://dx.doi.org/10.1111/cge.14235

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