ESPE Abstracts

Spondyloepiphyseal dysplasia tarda (SEDT) is an inherited disorder that is diagnosed in childhood or adolescence presents with disproportionate short stature and premature osteoarthritis with frequently affecting men. Here, we described a novel nonsense mutation, c.508A>T; p.Lys170Ter, in TRAPPC2 in a Turkish patient with X-linked SEDT. The patient is a 15-year-old boy from Turkish non-consanguineous parents, presented decreasing height velocity last three years and also th...