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