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Article

Pharmacologic correction of dominant-negative GH1 deficiency causing mutations.

Clinical and translational science - 1 Jun 2011

Poling Justin S, Phillips John A, Cogan Joy D, Hamid Rizwan

Abstract excerpt

PURPOSE: Dominant-negative growth hormone gene (GH1) mutations cause familial isolated growth hormone deficiency type II (IGHD II), which is characterized by GH deficiency, occasional multiple anterior pituitary hormone deficiencies, and anterior pituitary hypoplasia. We have previously shown that 17.5-/22-kDa GH1 transcript ratios correlate with the severity of the IGHD II phenotype. We hypothesized that...

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Identifiers

PMID: 21707947
DOI: 10.1111/j.1752-8062.2011.00290.x
PMCID: PMC5439858

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