Therefore, in humans and in mice loss-of-function mutations in the NPR2 gene cause a skeletal dysplasia, termed acromesomelic dysplasia type Maroteaux (AMDM; OMIM602875) with an extremely short and disproportionate stature (Bartels et al., 2004; Potter, 2011; Kuhn, 2016). Here, NPR2 is linked to skeletal dysplasia.