Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference21 articles.
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3. Dimitriadis G, Parry-Billings M, Bevan S, Dunger D, Piva T, et al: Effects of insulin-like growth factor I on the rates of glucose transport and utilization in rat skeletal muscle in vitro. Biochem J 285:269-274 (1992).
4. Donohue WL, Uchida I: Leprechaunism: a euphemism for a rare familial disorder. J Pediatr 45:505-519 (1954).
5. Drohobyczer D, Bellah R: Polycystic ovaries in leprechaunism. Pediatr Radiol 40:371 (2010).
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1. A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient;International Journal of Molecular Sciences;2024-03-08
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