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Article

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

Orphanet journal of rare diseases - 27 Jul 2023

Chen Hong, Zhang Suping, Sun Yunteng, Chen Jiao, Yuan Ke, Zhang Ying, Yang Xiaohong, Lin Xiangquan, Chen Ruimin

Abstract excerpt

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 to recombinant growth hormone (rhGH). METHODS: NPR2 was sequenced in three Chinese Han patients with short stature...

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Share to Adenosine Triphosphate
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptors, Atrial Natriuretic Factor

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Identifiers

PMID: 37501190
DOI: 10.1186/s13023-023-02757-8
PMCID: PMC10375756

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