Gene analysis associated with short stature and growth hormone responsiveness - Gene analysis associated with short stature and growth hormone responsiveness

We identified heterozygous NPR2 mutations in 2% of Japanese patients with short stature. Our in vitro findings indicate that NPR2 mutations have a dominant negative effect, and their dominant-negative mechanisms vary corresponding to the molecular pathogenesis of the mutations. (J Clin Endocrinol Metab 99: E713, 2014)