Genotype-phenotype correlation in inherited severe insulin resistance.

@article{Longo2002GenotypephenotypeCI,
  title={Genotype-phenotype correlation in inherited severe insulin resistance.},
  author={Nicola Longo and Yuhuan Wang and Shelley A. Smith and Sharon D. Langley and Linda Dimeglio and Daniel Giannella‐Neto},
  journal={Human molecular genetics},
  year={2002},
  volume={11 12},
  pages={
          1465-75
        }
}
The insulin receptor is a ligand-activated tyrosine kinase. Mutations in the corresponding gene cause the rare inherited insulin-resistant disorders leprechaunism and Rabson-Mendenhall syndrome. Patients with the most severe syndrome, leprechaunism, have growth restriction, altered glucose homeostasis and early death (usually before 1 year of age). Rabson-Mendenhall syndrome is less severe, with survival up to 5-15 years of age. These disorders are transmitted as autosomal recessive traits… 

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