Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a
defect in osteoclasts, bone resorption is prevented. The deficit could arise either from failure …

Osteopetrosis is a genetic condition of increased bone mass, which is caused by defects in
osteoclast formation and function. Both autosomal recessive and autosomal dominant forms …

Background: Osteopetrosis, a genetic disease characterised by osteoclast failure, is
classified into three forms: infantile malignant autosomal recessive osteopetrosis (ARO) …

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 …

Autosomal recessive malignant infantile osteopetrosis (ARO) is characterized by severe
osteosclerosis, pathologic fractures, hepatosplenomegaly, and pancytopenia. The …

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 …

We report three novel osteopetrosis patients with OSTM1 mutations and review two that
have been previously described. Our analysis suggests that OSTM1 defines a new subset of …

The osteopetrotic grey-lethal (gl) mouse mutant displays many similarities to the human
malignant autosomal-recessive form of osteopetrosis. In this study, we show that the gl …

Human osteopetrosis is a rare genetic disorder caused by osteoclast failure, which ranges
widely in severity. In the most severe forms, deficient bone resorption prevents enlargement …

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