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Osteopetrosis autosomal dominant type 1
Did you mean osteoporosis autosomal dominant type 1?
- ... an increase in bone mineral density. These include autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In some cases, these ...
- ... deVernejoul MC, Van Hul W. Albers-Schonberg 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/ ...
- ... recessive osteopetrosis is rarer, occurring in an estimated 1 in 250,000 people. ... about 75 percent of cases of autosomal dominant osteopetrosis, 10 to 15 percent of cases of ...
- ... chain Tests of ITGB3 ... Kobayashi M. Identification of the integrin beta3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. Br J Haematol. 2013 Feb; ...