Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.

doi:10.1016/0140-6736(93)91820-c

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Article

Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism.

Lancet (London, England) - 31 Jul 1993

Krook A, Brueton L, O'Rahilly S

Abstract excerpt

Mutations in the insulin receptor gene have been detected in patients with severe insulin resistance, but the absence of insulin receptors has not been recorded. We report a severely insulin resistant newborn baby, the offspring of consainguineous parents, who was homozygous for a nonsense mutati...

Topics

Base Sequence
DNA, Single-Stranded
Face
Fetal Growth Retardation
Hirsutism
Homozygote
Humans
Infant, Newborn
Insulin Resistance
Male
Molecular Sequence Data
Mutation
Phenotype
Receptor, Insulin
Syndrome

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