Autosomal dominant osteopetrosis – identification of a new mutation
Background: Osteopetrosis comprises a group of rare skeletal dysplasias characterized by increased bone density and paradoxical bone fragility. Among its forms, autosomal dominant osteopetrosis (ADO) is most frequently associated with mutations in the CLCN7 gene, encoding a chloride antiporter essen...
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| 主要な著者: | , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
SMC MEDIA SRL
2025-12-01
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| シリーズ: | European Journal of Case Reports in Internal Medicine |
| 主題: | |
| オンライン･アクセス: | https://www.ejcrim.com/index.php/EJCRIM/article/view/6042 |
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