ESPE Abstracts

Introduction: C-type natriuretic peptide (CNP, NPPC gene) and its receptor, natriuretic peptide receptor B (NPR-B, NPR2 gene), is critical for endochondral ossification in growth plate. Biallelic NPR2 mutations are known as acromesomelic dysplasia, type Maroteaux which is characterized by severe short stature. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth.Obje...