A novel missense mutation in the <it>CLCN7</it> gene linked to benign autosomal dominant osteopetrosis: a case series
<p>Abstract</p> <p>Introduction</p> <p>Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or malfunction of osteoclasts is found to be strongly associated with the disease evolution. Currently, four clinically disti...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2013-01-01
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| Series: | Journal of Medical Case Reports |
| Subjects: | |
| Online Access: | http://www.jmedicalcasereports.com/content/7/1/7 |