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Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature
Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be res...
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| Опубликовано в: : | Hum Mutat |
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| Главные авторы: | , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4382411/ https://ncbi.nlm.nih.gov/pubmed/25703509 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22773 |
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