Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature
Introduction: Natriuretic peptide receptor 2 (NPR2 or NPR-B) plays a central role in growth development and bone morphogenesis and therefore loss-of-function variations in NPR2 gene have been reported to 4 post backdrop stand cause Acromesomelic Dysplasia, Maroteaux type 1 and short stature.While several hypotheses have been proposed to underlie th