Autosomal recessive osteopetrosis 4 is caused by a deficient chloride channel. Mutations are found in the CLCN7 gene.
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Cleiren E et al. (2001) Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. |
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Kornak U et al. (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. |
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OMIM.ORG article Omim 611490 |
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Orphanet article Orphanet ID 53 |