The osteopetroses are a heterogeneous group of bone remodeling disorders characterized
by an increase in bone density due to a defect in osteoclastic bone resorption. In humans …

Abstract Purpose of Review The term osteopetrosis refers to a group of rare skeletal
diseases sharing the hallmark of a generalized increase in bone density owing to a defect in …

Osteopetrosis is a metabolic bone disease characterized by a systemic increase in skeletal
mass. It results from a defect in the production or function of osteoclasts and is inherited in …

Osteopetroses are rare human genetic disorders due to markedly decreased bone
resorption. To date, the only gene whose inactivation was known to be responsible for …

Osteopetrosis is a metabolic bone disease inherited in a number of species including
human beings and characterized by a generalized increase in skeletal density detected …

Progress has been made in recent years on the cell biology of the osteoclast and the
pathogenesis of congenital osteopetrosis. New information is critically evaluated and …

Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of
osteopetrosis have provided instrumental information on bone remodeling, including the …

Asymptomatic gene carriers and clinically affected ADO2 subjects have the same ClCN7
mutation. We examined osteoclastic bone resorption in vitro as well as osteoclast formation …

Osteopetrosis results from diminished osteoclast action. Defective skeletal resorption is
revealed by the persistence of primary spongiosa deposited during endochondral bone …

Abstract Felix R, Hofstetter W, Cecchini MG. Recent developments in the understanding of
the pathophysiology of osteopetrosis. Eur J Endocrinol 1996; 134: 143–56. ISSN 0804 …