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A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II
Journal of Clinical Endocrinology and Metabolism, 10/29/09
Hamid R et al. – Expression levels of both the mutant and normal GH1 allele are important in the pathogenesis of IGHD II, that the ratio of mutant/normal transcripts may be a predictive marker of the penetrance and severity of IGHD II, and that CLs may be useful as surrogates to study GH1 transcript expression of subjects whose anterior pituitary cells are not available.
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