๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Prenatal analysis of the insulin receptor gene in a family with leprechaunism

โœ 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

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Molecular analysis of the insulin recept
โœ C. Desbois-Mouthon; E. Girodon; N. Ghanem; M. Caron; A. Pennerath; P. Conteville ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 107 KB ๐Ÿ‘ 2 views

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

Homozygosity for a null allele of the in
โœ Jennifer Hone; Domenico Accili; Helen Psiachou; Jamie Alghband-Zadeh; Sally Mitt ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 600 KB

## 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