Autosomal recessive osteopetrosis is a rare congenital disorder characterized by the
development of abnormally dense bones, acrocephaly, severe anemia …

Osteosclerosis (oc) is an osteopetrotic mutation in the mouse inherited as an autosomal
recessive on chromosome 19. Affected animals (oc/oc) exhibit the characteristic radiologic …

The osteopetroses are a heterogeneous group of genetic conditions characterized by
increased bone density due to impaired bone resorption by osteoclasts. Within the …

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 characterized by excessive accumulation of
skeletal mass due to a reduction in bone resorption. The pathogenesis of osteopetrosis is …

We report on four individuals in one kindred with relative or absolute short stature: increased
upper/lower segment ratio with decreased arm span; mandibular prognathism and dental …

Autosomal dominant osteopetrosis (ADO), is a heritable disorder that results from a failure of
osteoclast-mediated bone resorption. The etiology of the disorder is unknown. A previous …

Autosomal dominant osteopetrosis is radiographically characterized by universal
osteosclerosis, primarily involving the axial skeleton, and by symmetrical affections of the …

Osteopetrosis (OPT) is a life-threatening disease characterized by increased bone mass
caused by diminished osteoclast function/differentiation. The autosomal recessive forms …

Osteopetrosis, a metabolic bone disease characterized by a generalized sclerosis of the
skeleton, is inherited as an autosomal recessive in a number of mammalian species. The …