Molecular and Cellular Basis of Isolated Dominant-Negative Growth Hormone Deficiency, IGHD Type II: Insights on the Secretory Pathway of Peptide Hormones

Abstract excerpt

Estimates of the frequency of GH deficiency range from 1:4,000 to 1:10,000. Most cases are sporadic and presumed to be secondary to a wide variety of aetiologies. However, in families with consanguinity, or when a second case occurs in the same family, a genetic cause may be suspected. Given that the patient is isolated GH deficient four distinct familial types of isolated GH deficiencies (IGHD) are...

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