Background Osteopetrosis encompasses a group of rare metabolic bone diseases
characterized by impaired osteoclast activity or development, resulting in high bone mineral …

This review of the mechanism of osteopetrosis incriminates molecular defects in osteoclasts
as the cause of the imbalance between bone formation by osteoblasts and bone resorption …

Type II autosomal dominant osteopetrosis (ADO II, Albers-Schönberg disease) is a genetic
condition characterized by generalized osteosclerosis predominating in some skeletal sites …

The discovery of ClC proteins at the beginning of the 1990s was important for the
development of the Cl-transport research field. ClCs form a large family of proteins that …

The art of interpreting skull radiographs is slowly being lost as trainees in radiology see
fewer plain radiographs and depend more heavily on computed tomography and magnetic …

Autosomal-recessive osteopetrosis is a severe genetic disease caused by osteoclast failure.
Approximately 50% of the patients harbor mutations of the ATP6i gene, encoding for the …

Abstract Osteopetrosis or Albers-Schonberg disease is a rare hereditary disorder of
osteoclast function in which resorption of bone is diminished, resulting in abnormally dense …

Osteopetrosis is a sclerosing bone dysplasia characterized by hard, brittle bone secondary
to dysfunctional osteoclast resorption. The three main forms are malignant autosomal …

Patients presenting with multiple cranial neuropathies are not uncommon in neurologic
clinical practice. The evaluation of these patients can often be overwhelming due to the vast …

✓ Osteopetrosis is a heterogeneous group of disorders characterized by abnormal bone
sclerosis. As a result, patients often require input regarding various neurological …