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Results 1 - 4 of 4 for "Osteopetrosis," autosomal dominant 3
  1. ... Waguespack SG, Hui SL, Dimeglio LA, Econs MJ. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab. 2007 Mar;92(3):771-8. doi: 10.1210/jc.2006-1986. ...
  2. ... for Rare Disorders (NORD) ClinicalTrials.gov ... RECESSIVE 3; OPTB3 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6 OSTEOPETROSIS, AUTOSOMAL ...
  3. ... an increase in bone mineral density. These include autosomal dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In some cases, these conditions can cause ...
  4. ... BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16 INTEGRIN, BETA-3; ITGB3 ... beta3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. Br J Haematol. 2013 Feb; ...