Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.

Abstract excerpt

PURPOSE OF THE REVIEW: Osteopetrosis is a heterogeneous group of bone diseases with increased bone density as a result of defective osteoclast function or differentiation. The clinical presentations range from the early, often lethal, infantile malignant forms to the mild autosomal dominant forms. This review provides recent updates in preclinical findings regarding molecular genetics, diagnosis, and novel...

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