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Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance
SUMMARY: We report a case of an 11-year-old girl presenting with a new diagnosis of diabetes associated with a heterozygous missense mutation in the insulin receptor (INSR) gene. This case highlights that INSR gene variants can be a cause for monogenic diabetes in children and adolescents and the ne...
Autores principales: | Sanderson, Elaine E, Shah, Mark, Hooper, Amanda J, Bell, Damon A, Choong, Catherine S |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8789010/ https://www.ncbi.nlm.nih.gov/pubmed/35000900 http://dx.doi.org/10.1530/EDM-21-0114 |
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