A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome

Author:

Ben Abdelaziz RimORCID,Ben Chehida Amel,Azzouz Hatem,Boudabbous Hela,Lascols Olivier,Ben Turkia Hadhami,Tebib Néji

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference13 articles.

1. Severe resistance to insulin and insulin-like growth factor-I in cells from a patient with leprechaunism as a result of two mutations in the tyrosine kinase domain of the insulin receptor;Desbois-Mouthon;Metabolism,1996

2. The human insulin receptor cDNA: the structural basis for hormone activated transmembrane signalling;Ebina;Cell,1985

3. Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism;Endo;Am. J. Hum. Genet.,1987

4. Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome;Hegele;Trends Endocrinol. Metab.,2003

5. Deletion of 3 basepairs resulting in the loss of lysine-121 in the insulin receptor alpha-subunit in a patient with leprechaunism: binding, phosphorylation, and biological activity;Jospe;J. Clin. Endocrinol. Metab.,1994

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