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Article

A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization.

The Journal of clinical endocrinology and metabolism - 1 Apr 2007

Inagaki Kenjiro, Tiulpakov Anatoly, Rubtsov Petr, Sverdlova Polina, Peterkova Valentina, Yakar Shoshana, Terekhov Sergei, LeRoith Derek

Abstract excerpt

CONTEXT: IGF-I/IGF-I receptor (IGF-IR) signaling pathways play important roles in longitudinal growth. A novel Arg481Glu (R481Q) mutation in IGF-IR was detected in a family with intrauterine and postnatal growth retardation. OBJECTIVE: The objective of the study was to explore the mechanism whereby the R481Q mutation may be causative in growth retardation. PATIENTS: A 13-yr-old girl with short stature was studied...

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Identifiers

PMID: 17264177
DOI: 10.1210/jc.2006-2354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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