Diagnostic search from out-of-hospital pneumonia to a rare genetic pathology: a clinical case of generalized osteopetrosis in the practice of an infectious disease physician
С. П. Кокорева, О.А. Разуваев, N. B. Yudina, E.A. Orlova et autres
Despite their rare incidence, orphan diseases can occur in the practice of a doctor of any specialty, causing diagnostic difficulties. Generalized osteopetrosis is a hereditary disease characterized by systemic sclerosis of skeletal bones. Infantile, adult and intermediate forms of the disease are …