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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2014
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369119/
https://www.ncbi.nlm.nih.gov/pubmed/25358339
http://dx.doi.org/10.1159/000366225

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