Osteopetrosis is a rare hereditary illness generated by failure in osteoclasts resulting in
elevated bone densities. Patients with osteopetrosis possess several complications, like …

Carbonic anhydrase II deficiency (OMIM# 259730), initially called “osteopetrosis with renal
tubular acidosis and cerebral calcification syndrome”, reveals an important role for the …

Osteopetrosis is a rare inherited disease caused by osteoclast failure, resulting in increasing
bone density in humans. Patients with osteopetrosis possess several dental and cranial …

The term osteopetrosis describes a group of rare hereditary diseases of the skeleton,
characterized by an increase in bone density, caused by a defect in the development or …

Osteopetrosis in laboratory animals is a metabolic bone disease characterized by increased
skeletal mass. It is inherited as an autosomal recessive and results from a defect in 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 group of genetic bone disorders characterized by increased bone density
and defective bone resorption. Osteopetrosis presents a series of clinical manifestations …

Introduction 3. Clinical perspective, genetic aberrations of human osteopetrosis 3.1. Human
infantile malignant autosomal recessive OP (arOP) 3.2. Intermediate forms of arOP 3.3 …

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 …

Carbonic anhydrase (CA) isoenzyme II deficiency—formerly called the syndrome of
osteopetrosis with renal tubular acidosis and cerebral calcification—is an autosomal …