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Article

Increasing knowledge in IGF1R defects: lessons from 35 new patients

5 Oct 2019

Abstract excerpt

Background The type 1 insulin-like growth factor receptor (IGF1R) is a keystone of fetal growth regulation by mediating the effects of IGF-I and IGF-II. Recently, a cohort of patients carrying an IGF1R defect was described, from which a clinical score was established for diagnosis. We assessed this score in a large cohort of patients with identified IGF1R defects, as no external validation was available....

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Genetic Syndromes and Imprinting
Growth Hormone and Insulin-like Growth Factors
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 31586944
DOI: 10.1136/jmedgenet-2019-106328

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