IMPE Abstracts

Background: Aggrecan (encoded by ACAN gene) is a significant proteoglycan that is an important component of the cartilage extracellular matrix, and plays a vital role in cartilage and bone morphogenesis. Pathogenic ACAN gene loss‐of‐function variants have been associated with various short stature and bone dysplasia.Objective: We observed the clinical and genetic characteristics of fourteen patients with ACAN v...