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Results 1 - 4 of 4 for Autosomal dominant osteopetrosis 1
  1. ... osteopetrosis Marble bone disease Osteopetroses Genetic Testing Registry: Autosomal dominant osteopetrosis 1 Genetic Testing Registry: Autosomal dominant osteopetrosis 2 Genetic ...
  2. ... an increase in bone mineral density. These include autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In some cases, these ...
  3. ... 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/ ...
  4. ... integrin beta3 L718P mutation in a pedigree with autosomal dominant ... and mouse models. Blood. 2011 Dec 1;118(23):5996-6005. doi: 10.1182/blood- ...