Sobacchi and colleagues discuss the clinical presentation and diagnosis of autosomal recessive osteopetrosis, a rare genetic condition characterized by increased bone mass. With a specific focus on genes linked to the disease and their function in osteoclasts, the authors describe current and potential treatments using molecular data from patients to aid diagnosis and improve clinical outcomes.
- Cristina Sobacchi
- Ansgar Schulz
- Miep H. Helfrich
