Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease characterized by
dense and fragile bone, caused by a defect in osteoclasts responsible for the bone …

Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and
phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In …

Autosomal recessive osteopetroses (AROs) are rare, genetically heterogeneous skeletal
diseases with increased bone density that are often lethal if left untreated. A precise …

Background Osteopetrosis is characterized by increased bone density and bone marrow
cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their …

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 …

Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical
heterogeneity, and is caused by defective osteoclastic resorption. The three main forms are …

Autosomal recessive osteopetrosis is a severe hereditary bone disease whose cellular basis
is in the osteoclast, but with heterogeneous molecular defects. We hereby report the clinical …

Abstract Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous
disorder caused by reduced bone resorption by osteoclasts. In 2000, we found that …

Osteopetrosis is a rare and heterogeneous genetic disorder characterized by dense bone
mass that is a consequence of defective osteoclast function and/or development. Autosomal …

Osteopetrosis is a heritable bone disorder resulting from a deficiency of or a functional
defect in osteoclasts. We aimed to characterize the molecular defects and clinical …