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Article

Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations

20 Jan 2020

Abstract excerpt

BACKGROUND: C-type natriuretic peptide (CNP, NPPC) and its receptor, natriuretic peptide receptor-B (NPR-B, NPR2), are critical for endochondral ossification. A monoallelic NPR2 mutation has been suggested to mildly impair long bone growth. This study was performed to identify the NPR2 mutations in Korean patients with idiopathic short stature (ISS). METHODS: One hundred and sixteen subjects with nonsyndromic ISS...

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PMID: 31960617
DOI: 10.1002/mgg3.1146

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