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Short Stature is Progressive in Patients with Heterozygous NPR2 Mutations
BACKGROUND: NPR2 encodes atrial natriuretic peptide receptor B (ANPRB), a regulator of skeletal growth. Biallelic loss-of-function mutations in NPR2 result in acromesomelic dysplasia Maroteaux type (AMDM; OMIM 602875), while heterozygous mutations may account for 2% to 6% of idiopathic short stature...
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| Publicat a: | J Clin Endocrinol Metab |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7442278/ https://ncbi.nlm.nih.gov/pubmed/32720985 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgaa491 |
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