Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

BACKGROUND/AIMS: Donohue and Rabson-Mendenhall syndrome are rare autosomal recessive disorders caused by mutations in the insulin receptor gene, INSR. Phenotypic features include extreme insulin resistance, linear growth retardation, paucity of fat and muscle, and soft tissue overgrowth. The insulin...

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Detalhes bibliográficos
Publicado no:Nephron Physiol
Main Authors: Simpkin, Arabella, Cochran, Elaine, Cameron, Fergus, Dattani, Mehul, de Bock, Martin, Dunger, David B., Forsander, Gun, Guran, Tulay, Harris, Julie, Isaac, Iona, Hussain, Khalid, Kleta, Robert, Peters, Catherine, Tasic, Velibor, Williams, Rachel, Yap Kok Peng, Fabian, O'Rahilly, Stephan, Gorden, Philipp, Semple, Robert K., Bockenhauer, Detlef
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2014
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Original Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4369119/
https://ncbi.nlm.nih.gov/pubmed/25358339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000366225
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