Genotype-phenotype correlation in inherited severe insulin resistance.

doi:10.1093/hmg/11.12.1465

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Article

Genotype-phenotype correlation in inherited severe insulin resistance.

Human molecular genetics - 1 Jun 2002

Longo Nicola, Wang Yuhuan, Smith Shelley A, Langley Sharon D, DiMeglio Linda A, Giannella-Neto Daniel

Abstract excerpt

The insulin receptor is a ligand-activated tyrosine kinase. Mutations in the corresponding gene cause the rare inherited insulin-resistant disorders leprechaunism and Rabson-Mendenhall syndrome. Patients with the most severe syndrome, leprechaunism, have growth restriction, altered glucose homeostasis and early death (usually before 1 year of age). Rabson-Mendenhall syndrome is less severe, with survival up to...

Topics

Amino Acid Substitution
Animals
CHO Cells
Cells, Cultured
Child
Child, Preschool
Codon, Nonsense
Cricetinae
Female
Fibroblasts
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Insulin

Insulin Resistance

Male

Molecular Sequence Data

Mutation, Missense

Phenotype

Source

Open in PubMed

Identifiers

PMID: 12023989
DOI: 10.1093/hmg/11.12.1465

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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