Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH

Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH

Abstract Objective Heterozygous loss-of-function variants in the NPR2 gene cause short stature with nonspecific skeletal abnormalities and account for about 2 ~ 6% of idiopathic short stature. This study aimed to analyze and identify pathogenic variants in the NPR2 gene and explore the therapeutic r...

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Bibliographic Details
Main Authors: Hong Chen, Suping Zhang, Yunteng Sun, Jiao Chen, Ke Yuan, Ying Zhang, Xiaohong Yang, Xiangquan Lin, Ruimin Chen
Format: Article
Language:English
Published: BMC 2023-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
NPR2 variants
Short stature
Loss-of-function variants
rhGH treatment
Online Access:https://doi.org/10.1186/s13023-023-02757-8

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