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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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
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SMC MEDIA SRL
2025-12-01
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| Schriftenreihe: | European Journal of Case Reports in Internal Medicine |
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| Online-Zugang: | https://www.ejcrim.com/index.php/EJCRIM/article/view/6042 |
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