Skoltech scientist Ilya Mazunin has co-authored a paper “A new family with epiphyseal chondrodysplasia type Miura” recently published in American Journal of Medical Genetics. The researchers have described a family with five members affected by an extremely rare genetic disorder known as epiphyseal chondrodysplasia, Miura type. The disease is induced by mutations in gene NPR2 encoding atrial natriuretic peptide receptor. Full text of the paper is available here.