Homozygous nonsense mutation in the insulin receptor gene of a patient with severe congenital insulin resistance: leprechaunism and the role of the insulin-like growth factor receptor
โ Scribed by Nicholas Kaplowitz; Richard W. Furlanetto
- Book ID
- 114425316
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 333 KB
- Volume
- 45
- Category
- Article
- ISSN
- 0300-0664
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Haemangiopericytoma is a rare soft tissue tumour originating from the contractile pericapillary cells. Relatively little is known about its molecular pathogenesis. To address this issue, the insulin-like growth factor family (IGFs) was analysed in 19 tumours collected from a human tumour bank networ
## 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