A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. Issue 11 (24th August 2015) - Prontera, Paolo
Abstract The proband presented with clinical features of SHORT syndrome, high IGF1 levels, developmental delay, CNS defects, and marked progeroid appearance. Anew homozygous c.2201G>T missense mutation in the IGF1R gene was identified. Functional studies in patient's cell lines showed a lower IGF1R expression that leads to the alteration of IGFlR‐mediated AKT downstream pathway.