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A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis an...
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| Pubblicato in: | J Clin Res Pediatr Endocrinol |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Galenos Publishing
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6878338/ https://ncbi.nlm.nih.gov/pubmed/30759959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0229 |
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