IMPE Abstracts

Insulin-like growth factor 1 (IGF1) plays key roles in promoting growth, during both pre- and post-natal life and regulating neurologic development in mammals. IGF1 gene mutations are extremely rare causes of pre- and post-natal growth retardation. Phenotype can be heterogenous with varying degrees of neurosensory deafness, cognitive defects, glucose metabolism impairment and short stature. We have previously described two patients with novel homozygous IGF1missense v...