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Homozygous deletion of the human insulin receptor gene results in leprechaunism

✍ Scribed by Backeljauw, Philippe F.; Davenport, Marsha L.; Taylor, Simeon I.; Wertheimer, Efrat; Lu, Su-Ping

Book ID: 109916901
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 356 KB
Volume: 5
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0993-71

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Leprechaunism is a rare autosomal recessive disorder characterized by marked intrauterine and postnatal growth retardation, severe insulin resistance, and altered glucose homeostasis. This syndrome is related to mutations in the insulin receptor (IR) gene that impair the transmission of the insulin