Identification of NPR2 gene mutations affecting chondrocyte differentiation in short stature through JAK2-STAT5
Abstract Background Natriuretic peptide receptor 2 (NPR2) is a crucial regulator of endochondral bone growth. However, patients carrying heterozygous NPR2 gene mutations exhibit a wide range of clinical phenotypes, and evidence regarding treatment efficacy is limited, with the pathogenic mechanisms...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03936-5 |
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