Article
Clinical Characteristics of Short-Stature Patients With an NPR2 Mutation and the Therapeutic Response to rhGH.
The Journal of clinical endocrinology and metabolism - 23 Jan 2021
Ke Xiaoan, Liang Hanting, Miao Hui, Yang Hongbo, Wang Linjie, Gong Fengying, Pan Hui, Zhu Huijuan
Abstract excerpt
CONTEXT: The natriuretic peptide receptor 2 gene (NPR2) is a causative gene of idiopathic short stature (ISS) with an incidence rate of 2% to 6%. The clinical characteristics of patients with NPR2 heterozygous mutations are atypical, and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with NPR2 mutations are limited. OBJECTIVES: This work reports 6 cases with NPR2 mutation...
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