Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.
Il Tae HwangYusuke MizunoNaoko AmanoHye Jin LeeYoung Suk ShimHyo-Kyoung NamYoung-Jun RhieSeung YangKee-Hyoung LeeTomonobu HasegawaMin Jae KangPublished in: Molecular genetics & genomic medicine (2020)
Heterozygous NPR2 mutations were found in 2.6% of ISS Korean subjects. This prevalence and the dominant-negative effect of mutant NPR-B on growth signals imply that it is one of genetic causes of ISS.