Condition: Rabson-Mendenhall Syndrome


rs121913143 in INSR gene and Rabson-Mendenhall Syndrome PMID 12023989 2002 Genotype-phenotype correlation in inherited severe insulin resistance.

PMID 17201797 2007 Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.

PMID 28765322 2017 Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.

PMID 2365819 1990 In the patient with the Rabson-Mendenhall syndrome (patient RM-1), the missense mutation substituted lysine for Asn15 in the alpha-subunit.

PMID 2121734 1990 Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.

PMID 10443650 1999 Progressive decline in insulin levels in Rabson-Mendenhall syndrome.

PMID 8314008 1994 Molecular scanning of the insulin receptor gene in syndromes of insulin resistance.

PMID 2365819 1990 Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.

PMID 26691667 2016 A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.