A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
Osteopetrosis is a genetic condition of the skeleton characterized by increased bone density caused by osteoclast formation and function defects. Osteopetrosis is inherited in the form of autosomal dominant and autosomal recessive manner. We report autosomal recessive osteopetrosis (ARO; OMIM 611490...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Frontiers Media S.A.,
2023-04-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |