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See Latest ArticlesA recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency
Journal of Clinical Endocrinology and Metabolism, 07/22/09
Giordano M et al. – At difference from previous papers reporting GHRHR mutations in familial cases with a clear recessive mode of inheritance, the authors study was conducted on a large sample of sporadic patients and allowed to discover a novel mechanism of the disease caused by a recurrent dominant mutation in the GHRHR signal peptide associated with incomplete penetrance.
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