Potocki-Shaffer Syndrome (POSHS)

Potocki-Shaffer Syndrome, also known as proximal 11p deletion syndrome, is related to systemic scleroderma and parietal foramina. An important gene associated with Potocki-Shaffer Syndrome is PSS (Potocki-Shaffer Syndrome), and among its related pathways/superpathways are NF-kappaB Signaling and IL27-mediated signaling events. Affiliated tissues include bone and heart, and related phenotypes are global developmental delay and brachycephaly