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Article

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

8 Mar 2019

Abstract excerpt

CONTEXT: The phenotype and response to GH treatment of children with an IGF1R defect is insufficiently known. OBJECTIVE: To develop a clinical score for selecting children with short stature for genetic testing and evaluate the efficacy of treatment. DESIGN AND SETTING: Case series with an IGF1R defect identified in a university genetic laboratory. PATIENTS AND INTERVENTIONS: Of all patients with sufficient...

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PMID: 30848790
DOI: 10.1210/jc.2018-02065

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