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Article

Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.

The Journal of clinical endocrinology and metabolism - 1 May 2009

Fang Peng, Schwartz I David, Johnson Betty D, Derr Michael A, Roberts Charles T, Hwa Vivian, Rosenfeld Ron G

Abstract excerpt

BACKGROUND: IGF-I, essential for normal human growth in utero and postnatally, mediates its effects through the IGF-I receptor (IGF1R), a widely expressed, cell surface tyrosine kinase receptor. Five cases of heterozygous mutations in the IGF1R gene have been identified in patients with varying degrees of intrauterine and postnatal growth retardation. OBJECTIVE: The objective of the study was the analysis of the...

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PMID: 19240156
DOI: 10.1210/jc.2008-1903

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

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