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

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 response...

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Detalles Bibliográficos
Autores principales: Chen, Hong, Zhang, Suping, Sun, Yunteng, Chen, Jiao, Yuan, Ke, Zhang, Ying, Yang, Xiaohong, Lin, Xiangquan, Chen, Ruimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10375756/
https://www.ncbi.nlm.nih.gov/pubmed/37501190
http://dx.doi.org/10.1186/s13023-023-02757-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10375756/
https://www.ncbi.nlm.nih.gov/pubmed/37501190
http://dx.doi.org/10.1186/s13023-023-02757-8

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