Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
Hum Mol Genet. 2001 Dec 1;10(25):2861-7. doi: 10.1093/hmg/10.25.2861.
Hum Mol Genet. 2001.
PMID: 11741829