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
โฆ LIBER โฆ
Prenatal analysis of the insulin receptor gene in a family with leprechaunism
โ Scribed by Dr Nicola Longo; Sharon D. Langley; Maria J. Still; Louis J. Elsas
- Book ID
- 111701133
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 554 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0197-3851
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## Communicated by Urn Frrmcke Mutations in the insulin receptor gene can cause genetic syndromes associated with extreme insulin resistance. We have investigated a patient with leprechaunism (IeprechaudQatar-I) born of a consanguineous marriage. Postnatally, the proband had episodes of severe hyp
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