IMPE Abstracts

Background: Simpson Golabi Behmel syndrome (SGBS) is caused by loss-of-function mutations in the GPC3 gene, which encodes glypican-3, a cell-surface heparan sulfate proteoglycan that acts as a negative regulator of the Hedgehog signaling pathway during development. GPC3 mutations result in hyperactivation of Hedgehog signaling ultimately leading to pre- and postnatal overgrowth and cancer. On the other hand, thyroglossal duct cyst (TGD) is a ...