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...

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Detalles Bibliográficos
Autores principales: Sanderson, Elaine E, Shah, Mark, Hooper, Amanda J, Bell, Damon A, Choong, Catherine S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
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

Internet

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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