Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R)

Medicine & Life Sciences

• Somatomedin Receptors 100%
• Mutation 42%
• Insulin-Like Growth Factor I 20%
• Fetal Growth Retardation 15%
• Siblings 12%
• Insulin Antibodies 9%
• IGF Type 1 Receptor 8%
• Missense Mutation 7%
• Growth 6%
• Fathers 6%
• Exons 5%
• Genes 5%
• Signal Transduction 5%
• Fibroblasts 5%
• Mothers 4%
• Phenotype 4%
• Skin 3%
• Serum 3%
• In Vitro Techniques 3%

Chemical Compounds

• Mutation 64%
• Intrauterine 22%
• Signal Transduction 7%