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Article

Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of the Phenotype and Implications for Insulin Resistance.

The Journal of clinical endocrinology and metabolism - 17 May 2023

Giacomozzi Claudio, Martin Ayelen, Fernández María Celia, Gutiérrez Mariana, Iascone Maria, Domené Horacio M, Dominici Fernando P, Bergadá Ignacio, Cangiano Biagio, Persani Luca, Pennisi Patricia A

Abstract excerpt

CONTEXT: Insulin-like growth factor (IGF)1 gene mutations are extremely rare causes of pre- and postnatal growth retardation. Phenotype can be heterogenous with varying degrees of neurosensory deafness, cognitive defects, glucose metabolism impairment and short stature. OBJECTIVE: This study describes a 12.6-year-old girl presenting with severe short stature and insulin resistance, but with normal hearing and...

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Source

Identifiers

PMID: 36546343
DOI: 10.1210/clinem/dgac738

Provenance

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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