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Article

A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.

The Journal of clinical endocrinology and metabolism - 1 Dec 2009

Hamid Rizwan, Phillips John A, Holladay Cindy, Cogan Joy D, Austin Eric D, Backeljauw Philippe F, Travers Sharon H, Patton James G

Abstract excerpt

CONTEXT: Dominant-negative 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. The basis of the variable expression and progression of IGHD II among relatives who share the same GH1 mutation is poorly understood. OBJECTIVE: We hypothesized that the...

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Identifiers

PMID: 19837935
DOI: 10.1210/jc.2009-0746
PMCID: PMC2795644

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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