Article
Prenatal analysis of the insulin receptor gene in a family with leprechaunism.
Prenatal diagnosis - 1 Nov 1995
Longo N, Langley S D, Still M J, Elsas L J
Abstract excerpt
Leprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prenatal diagnosis of leprechaunism in one consanguineous family, Atl-1, in which two homozygous-affected siblings died with...
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