Familial short stature and intrauterine growth retardation associated with a novel mutation in the <scp>IGF</scp>‐<scp>I</scp> receptor (<i><scp>IGF1R</scp></i>) gene

Abstract

Our results show a novel missense mutation in the IGF1R gene (c.A1549T, p.Y487F) associated with prenatal and postnatal growth failure and microcephaly in the context of familial short stature. The functional studies are in line with the inactivation of one copy of the IGF1R gene with variable expression within the same family.