Associated Papers
Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations.
Kawashima-Sonoyama Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
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
Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.
Fujimoto M et al.
Clinical Endocrinology, 2015
Deep sequencing of gastric carcinoma reveals somatic mutations relevant to personalized medicine.
Holbrook JD et al.
Journal of Translational Medicine, 2011
21781349 (PubMed )
Supplement: 1479-5876-9-119-S7.XLS › exome_summary
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