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Recessive Isolated Growth Hormone Deficiency and Mutations in the Ghrelin Receptor
Journal of Clinical Endocrinology and Metabolism, 10/12/09
Pantel J et al. – These data, which describe the first case of recessive partial isolated GH deficiency due to GHSR mutations and emphasize the physiological importance of the GHSR in somatic growth, are discussed in light of the dominantly expressed p.A204E mutation.
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