Associated Papers
Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
Cabrera-Salcedo C et al.
Hormone Research in Paediatrics, 2019
IGF1R Gene Alterations in Children Born Small for Gestitional Age (SGA).
Janchevska A et al.
Open Access Macedonian Journal of Medical Sciences, 2018
IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.
Yang L et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Large-scale analysis of variation in the insulin-like growth factor family in humans reveals rare disease links and common polymorphisms.
Rotwein P
The Journal of Biological Chemistry, 2017
Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.
Ocaranza P et al.
Hormone Research in Paediatrics, 2017
Molecular IGF-1 and IGF-1 receptor defects: from genetics to clinical management.
Walenkamp MJ et al.
Endocrine Development, 2013
Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).
Fang P et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.
Pfäffle R et al.
Pediatric Endocrinology Reviews : Per, 2011
Diagnosis and management of disorders of IGF-I synthesis and action.
Wit JM
Pediatric Endocrinology Reviews : Per, 2011
IGF1R mutations as cause of SGA.
Klammt J et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
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