Osteopetrosis autosomal recessive 3
Other Names for this Disease
- Autosomal recessive osteopetrosis type 3
- Carbonic anhydrase 2 deficiency
- Guibaud Vainsel syndrome
- Guibaud-Vainsel syndrome
- Marble brain disease
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autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance:
Last updated: 11/14/2011
- Osteopetrosis. Genetics Home Reference. September 2010; http://ghr.nlm.nih.gov/condition/osteopetrosis. Accessed 11/14/2011.
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