Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor.

Abstract excerpt

The phenotypic characteristics of isolated growth hormone deficiency (IGHD) type IB in humans, such as autosomal recessive inheritance, time of onset of growth retardation, diminished secretion of growth hormone (GH) and IGF-I, proportional reduction in weight and size, and delay in sexual maturation, has much in common with the phenotype of the homozygous little/little (lit/lit) mouse. Sequencing of the GH...

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