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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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
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Pediatric Endocrinology and Diabetes Society
2019-12-01
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| Series: | JCRPE |
| Assuntos: | |
| Acceso en liña: |
http://www.jcrpe.org/archives/archive-detail/article-preview/a-case-of-autosomal-dominant-osteopetrosis-type-2-/23618
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