Heterozygous Mutations in Natriuretic Peptide Receptor-B (<i>NPR2</i>) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Abstract

We identified heterozygous NPR2 mutations in 6% of patients initially classified as ISS. Affected patients have mild and variable degrees of short stature without a distinct phenotype. Heterozygous mutations in NPR2 could be an important cause of nonsyndromic familial short stature.