Article
Genotype-phenotype correlation in inherited severe insulin resistance.
Human molecular genetics - 1 Jun 2002
Longo Nicola, Wang Yuhuan, Smith Shelley A, Langley Sharon D, DiMeglio Linda A, Giannella-Neto Daniel
Abstract excerpt
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...
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