Associated Papers
Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism
Çelik NB et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration.
Kawashima-Sonoyama Y et al.
Endocrine Journal, 2024
Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.
Jacobs A et al.
Cold Spring Harbor Molecular Case Studies, 2022
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
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
Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation.
Kawashima Y et al.
Clinical Endocrinology, 2012
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